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October 2021; 7 (5)

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A

  1. Alexander, Daniel C.

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

  2. Atkinson, Derek

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

B

  1. Battaloğlu, Esra

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

  2. Boutonnat, Jean

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  3. Brodtmann, Amy

    1. Open Access
      The Dose Makes the Poison
      Amy Brodtmann, Aamira Huq

C

  1. Çakar, Arman

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

  2. Campion, Dominique

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  3. Candayan, Ayşe

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

  4. Cassinari, Kévin

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  5. Castillo, Allison del

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  6. Choi, Elaine

    1. Open Access
      Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report
      Elaine Choi, Breanne Dale, Rajesh RamachandranNair, Resham Ejaz

  7. Collier, Victoria

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  8. Coste, Thibault

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  9. Croisile, Bernard

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

D

  1. Dale, Breanne

    1. Open Access
      Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report
      Elaine Choi, Breanne Dale, Rajesh RamachandranNair, Resham Ejaz

  2. De Hertogh, Gert

    1. Open Access
      Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK
      Wim Vandenberghe, Dorien Imberechts, Koen Van Laere, Levi Jannis, Gert De Hertogh, Alicja Ronisz, Dietmar Rudolf Thal

  3. Derks, Eske M.

    1. Open Access
      Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease
      Zachary F. Gerring, Eric R. Gamazon, Anthony White, Eske M. Derks

  4. Drury, Luke

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

  5. Durmuş, Hacer

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

E

  1. Ejaz, Resham

    1. Open Access
      Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report
      Elaine Choi, Breanne Dale, Rajesh RamachandranNair, Resham Ejaz

F

  1. Fisher, Michael J.

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  2. Formaglio, Maïté

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

G

  1. Gamazon, Eric R.

    1. Open Access
      Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease
      Zachary F. Gerring, Eric R. Gamazon, Anthony White, Eske M. Derks

  2. Garbarino, Sara

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

  3. Gautel, Mathias

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  4. Gerevini, Simonetta

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  5. Gerring, Zachary F.

    1. Open Access
      Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease
      Zachary F. Gerring, Eric R. Gamazon, Anthony White, Eske M. Derks

  6. Glass, Jonathan D.

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

  7. Gomez-Puertas, Paulino

    1. Open Access
      Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
      Patricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, Paulino Gomez-Puertas, Fanny Mochel, Pedro. A. Lazo

  8. Grangeon, Lou

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  9. Gregory, Sarah

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

H

  1. Hackman, Peter

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  2. Hirsch, Lawrence J.

    1. Open Access
      Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
      Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, Lawrence J. Hirsch

  3. Huovinen, Sanna Pauliina

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  4. Huq, Aamira

    1. Open Access
      The Dose Makes the Poison
      Amy Brodtmann, Aamira Huq

I

  1. Imberechts, Dorien

    1. Open Access
      Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK
      Wim Vandenberghe, Dorien Imberechts, Koen Van Laere, Levi Jannis, Gert De Hertogh, Alicja Ronisz, Dietmar Rudolf Thal

  2. Inker, Tess

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

J

  1. Jannis, Levi

    1. Open Access
      Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK
      Wim Vandenberghe, Dorien Imberechts, Koen Van Laere, Levi Jannis, Gert De Hertogh, Alicja Ronisz, Dietmar Rudolf Thal

  2. Johari, Mridul

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  3. Johnson, Eileanoir B.

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

  4. Jokela, Manu E.

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  5. Jonson, Per Harald

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  6. Jordanova, Albena

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

K

  1. Keren, Boris

    1. Open Access
      Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
      Patricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, Paulino Gomez-Puertas, Fanny Mochel, Pedro. A. Lazo

L

  1. Lazo, Pedro. A.

    1. Open Access
      Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
      Patricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, Paulino Gomez-Puertas, Fanny Mochel, Pedro. A. Lazo

  2. Le Meur, Nathalie

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  3. Lincoln, Tara

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

  4. Lorenzi, Marco

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

M

  1. Marcos-Alcalde, Iñigo

    1. Open Access
      Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
      Patricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, Paulino Gomez-Puertas, Fanny Mochel, Pedro. A. Lazo

  2. Martin, Staci

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  3. Miné, Manuele

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  4. Mistry, Pramod K.

    1. Open Access
      Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
      Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, Lawrence J. Hirsch

  5. Mochel, Fanny

    1. Open Access
      Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
      Patricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, Paulino Gomez-Puertas, Fanny Mochel, Pedro. A. Lazo

  6. Moreaud, Olivier

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  7. Morejon-Garcia, Patricia

    1. Open Access
      Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
      Patricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, Paulino Gomez-Puertas, Fanny Mochel, Pedro. A. Lazo

  8. Mullin, Kathy

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

N

  1. Nicolas, Gael

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  2. Nigro, Vincenzo

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

O

  1. Onore, Maria Elena

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  2. Özdağ Acarlı, Ayşe Nur

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

P

  1. Packer, Roger J.

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  2. Palettas, Marilly

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

  3. Paltin, Iris

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  4. Parman, Yeşim

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

  5. Paulsen, Jane S.

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

  6. Pipiras, Eva

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  7. Previtali, Stefano Carlo

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

Q

  1. Quraishi, Imran H.

    1. Open Access
      Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
      Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, Lawrence J. Hirsch

R

  1. RamachandranNair, Rajesh

    1. Open Access
      Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report
      Elaine Choi, Breanne Dale, Rajesh RamachandranNair, Resham Ejaz

  2. Rich, Kelly A.

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

  3. Roderick, Marie Claire

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  4. Roggenbuck, Jennifer

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

  5. Ronisz, Alicja

    1. Open Access
      Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK
      Wim Vandenberghe, Dorien Imberechts, Koen Van Laere, Levi Jannis, Gert De Hertogh, Alicja Ronisz, Dietmar Rudolf Thal

  6. Rousseau, Stéphane

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  7. Rovelet-Lecrux, Anne

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

S

  1. Sady, Maegan D.

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  2. Savarese, Marco

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  3. Scahill, Rachael I.

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

  4. Scarlato, Marina

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  5. Schroeder, Joceyln

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

  6. Shirali, Anushree C.

    1. Open Access
      Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
      Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, Lawrence J. Hirsch

  7. Struemph, Kari

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  8. Szekely, Anna M.

    1. Open Access
      Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
      Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, Lawrence J. Hirsch

T

  1. Tabrizi, Sarah J.

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

  2. Thal, Dietmar Rudolf

    1. Open Access
      Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK
      Wim Vandenberghe, Dorien Imberechts, Koen Van Laere, Levi Jannis, Gert De Hertogh, Alicja Ronisz, Dietmar Rudolf Thal

  3. Toledo-Tamula, Mary Anne

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  4. Topaloğlu, Pınar

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

  5. Torella, Annalaura

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

  6. Tournier-Lasserve, Elisabeth

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

U

  1. Udd, Bjarne

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

V

  1. Vandenberghe, Wim

    1. Open Access
      Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK
      Wim Vandenberghe, Dorien Imberechts, Koen Van Laere, Levi Jannis, Gert De Hertogh, Alicja Ronisz, Dietmar Rudolf Thal

  2. Van Laere, Koen

    1. Open Access
      Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK
      Wim Vandenberghe, Dorien Imberechts, Koen Van Laere, Levi Jannis, Gert De Hertogh, Alicja Ronisz, Dietmar Rudolf Thal

  3. Vicini, Leah

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass

  4. Vihola, Anna

    1. Open Access
      Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
      Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

W

  1. Wallon, David

    1. Open Access
      Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
      Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnat, Nathalie Le Meur, Manuele Miné, Thibault Coste, Eva Pipiras, Elisabeth Tournier-Lasserve, Anne Rovelet-Lecrux, Dominique Campion, David Wallon, Gael Nicolas

  2. Walsh, Karin S.

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  3. White, Anthony

    1. Open Access
      Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease
      Zachary F. Gerring, Eric R. Gamazon, Anthony White, Eske M. Derks

  4. Widemann, Brigitte C.

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

  5. Wijeratne, Peter A.

    1. Open Access
      Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
      Peter A. Wijeratne, Sara Garbarino, Sarah Gregory, Eileanoir B. Johnson, Rachael I. Scahill, Jane S. Paulsen, Sarah J. Tabrizi, Marco Lorenzi, Daniel C. Alexander

  6. Wolters, Pamela L.

    1. Open Access
      Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
      Karin S. Walsh, Pamela L. Wolters, Brigitte C. Widemann, Allison del Castillo, Maegan D. Sady, Tess Inker, Marie Claire Roderick, Staci Martin, Mary Anne Toledo-Tamula, Kari Struemph, Iris Paltin, Victoria Collier, Kathy Mullin, Michael J. Fisher, Roger J. Packer

Y

  1. Yapıcı, Zuhal

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

  2. Yunisova, Gulshan

    1. Open Access
      Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
      Ayşe Candayan, Arman Çakar, Gulshan Yunisova, Ayşe Nur Özdağ Acarlı, Derek Atkinson, Pınar Topaloğlu, Hacer Durmuş, Zuhal Yapıcı, Albena Jordanova, Yeşim Parman, Esra Battaloğlu

Z

  1. Zaleski, Christina

    1. Open Access
      Amyotrophic Lateral Sclerosis Genetic Access ProgramPaving the Way for Genetic Characterization of ALS in the Clinic
      Jennifer Roggenbuck, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D. Glass
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Neurology Genetics: 7 (5)
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