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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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April 2022; 8 (2)

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A

  1. Allen, Mariet

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Atık, Merve

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)

B

  1. Balestra, Dario

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Barghigiani, Melissa

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Bassi, Maria Teresa

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Battini, Roberta

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Bernard, Genevieve

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Bertini, Enrico

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
    2. Open Access
      Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
      Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
      • Abstract
      • Full Text
      • Full Text (PDF)
    3. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Bizzotto, Matteo

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Bombelli, Francesco

    1. Open Access
      Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
      Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Bonkowsky, Joshua L.

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)

C

  1. Campbell, Alana S.

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Casali, Carlo

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Cereda, Cristina

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Chen, Dian-Fu

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
      Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Chen, Yu-Lan

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
      Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Cioffi, Ettore

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Conway, Olivia

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Corda, Morgane

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Criscuolo, Chiara

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)

D

  1. D'Amico, Adele

    1. Open Access
      Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
      Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. D'Angelo, Maria Grazia

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Dahl, Hans Atli

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Dal Fabbro, Beatrice

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Dato, Clemente

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. DeBono, Madeline

    1. Open Access
      Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
      Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Debska-Vielhaber, Grazyna

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Dekker, Hanka

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Diamanti, Luca

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  10. Dickson, Dennis W.

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  11. Di Muzio, Antonio

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  12. Dotti, Maria Teresa

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)

E

  1. Eichler, Florian

    1. Open Access
      Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
      Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Ertekin-Taner, Nilüfer

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)

F

  1. Fatemi, Seyed Ali

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Filla, Alessandro

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Frasca, Angelisa

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)

G

  1. Gao, Yunan

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Gioiosa, Valeria

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Graff-Radford, Neill R.

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Grishchuk, Yulia

    1. Open Access
      Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
      Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
      • Abstract
      • Full Text
      • Full Text (PDF)

H

  1. Hippen, Marius

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Ho, Charlotte C.G.

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)

J

  1. Jaklic, Helena

    1. Open Access
      Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
      Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Jansson, Lilja

    1. Open Access
      ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
      Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
      • Abstract
      • Full Text
      • Full Text (PDF)

K

  1. Kaivola, Karri

    1. Open Access
      ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
      Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Ke, Hua-Zhen

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
      Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Kinali, Maria

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Koritnik, Blaz

    1. Open Access
      Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
      Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Krägeloh-Mann, Ingeborg

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Kunz, Wolfram S.

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)

L

  1. Laaksovirta, Hannu

    1. Open Access
      ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
      Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Landsberger, Nicoletta

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Launes, Jyrki

    1. Open Access
      ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
      Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Leferink, Prisca S.

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Leonardis, Lea

    1. Open Access
      Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
      Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Li, Hong-Fu

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
      Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Liguori, Rocco

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Lincoln, Sarah

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)

M

  1. Machts, Judith

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Malphrus, Kimberly

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Martinuzzi, Andrea

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Massa, Roberto

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Maver, Ales

    1. Open Access
      Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
      Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Mazarakis, Nicholas D.

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Melone, Mariarosa Anna Beatrice

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Mignarri, Andrea

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Misko, Albert L.

    1. Open Access
      Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
      Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
      • Abstract
      • Full Text
      • Full Text (PDF)
  10. Moroni, Rossana

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  11. Musumeci, Olimpia

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)

N

  1. Nguyen, Thuy

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Nicita, Francesco

    1. Open Access
      Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
      Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
      • Abstract
      • Full Text
      • Full Text (PDF)
    2. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)

O

  1. Oatman, Stephanie R.

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Oberman, Rebecca

    1. Open Access
      Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
      Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Orlacchio, Antonio

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Orologio, Ilaria

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Orsi, Laura

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Ozura Brecko, Ana

    1. Open Access
      Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
      Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
      • Abstract
      • Full Text
      • Full Text (PDF)

P

  1. Pavlidou, Efterpi

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Peeva, Viktoriya

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Pegoraro, Elena

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Peterlin, Borut

    1. Open Access
      Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
      Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Petersen, Ronald C.

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Petrucci, Antonio

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Pinotti, Mirko

    1. Open Access
      Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
      Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, Maria Kinali
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Plumari, Massimo

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Pro, Stefano

    1. Open Access
      Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
      Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
      • Abstract
      • Full Text
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R

  1. Raas-Rothschild, Annick

    1. Open Access
      Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
      Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Rauner, Robert

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Ricca, Ivana

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Riso, Vittorio

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Rizzo, Giovanni

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Romano, Silvia

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Rossi, Salvatore

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Rubegni, Anna

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Rumore, Roberto

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)

S

  1. Sampaolo, Simone

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Santorelli, Filippo Maria

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Saunier-Vivar, Elise

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Scarlato, Marina

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Schiffmann, Raphael

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Schwiecker, Kati

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Seri, Marco

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Silvestri, Gabriella

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Skrjanec Pusenjak, Marusa

    1. Open Access
      Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
      Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
      • Abstract
      • Full Text
      • Full Text (PDF)
  10. Stefan, Cristina

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  11. Straccia, Giulia

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  12. Strickland, Samantha

    1. Open Access
      Clinical Deep Phenotyping of ABCA7 Mutation Carriers
      Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
      • Abstract
      • Full Text
      • Full Text (PDF)

T

  1. Tessa, Alessandra

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Tienari, Pentti J.

    1. Open Access
      ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
      Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Tosi, Michele

    1. Open Access
      Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
      Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Travaglini, Lorena

    1. Open Access
      Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
      Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
      • Abstract
      • Full Text
      • Full Text (PDF)
    2. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Traynor, Bryan J.

    1. Open Access
      ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
      Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Trovato, Rosanna

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)

U

  1. Ulgheri, Lucia

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)

V

  1. van Bokhoven, Pieter

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. van der Knaap, Marjo S.

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Vanderver, Adeline

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. van de Ven, Peter

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Vazza, Giovanni

    1. Open Access
      Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4A Cross-sectional Study by the Italian DAISY Network
      Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Vielhaber, Stefan

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)

W

  1. Wiesner, Rudolf J.

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Wolf, Nicole I.

    1. Open Access
      Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
      Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Wood, Levi B.

    1. Open Access
      Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
      Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Writzl, Karin

    1. Open Access
      Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
      Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, Helena Jaklic, Ana Ozura Brecko, Blaz Koritnik, Borut Peterlin, Karin Writzl
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Wu, Zhi-Ying

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
      Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
      • Abstract
      • Full Text
      • Full Text (PDF)

Z

  1. Zhao, Shao-Yun

    1. Open Access
      Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
      Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Zsurka, Gábor

    1. Open Access
      Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
      Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
      • Abstract
      • Full Text
      • Full Text (PDF)
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