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April 2018; 4 (2)

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A

  1. Afawi, Zaid

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  2. Alrohaif, Hadil

    1. Open Access
      Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
      Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

  3. Aupy, Jerome

    1. Open Access
      Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
      Elsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl

B

  1. Baets, Jonathan

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  2. Balling, Rudi

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  3. Baple, Emma L.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  4. Barwick, Katy E.S.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  5. Beijer, Danique

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  6. Beverloo, H. Berna

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  7. Blakely, Randy D.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  8. Bobbili, Dheeraj R.

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  9. Bonifati, Vincenzo

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  10. Bonnan, Mickael

    1. Open Access
      Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
      Elsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl

  11. Bouwkamp, Christian G.

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  12. Bower, Matthew

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  13. Breedveld, Guido J.

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  14. Brice, Alexis

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  15. Burbaud, Pierre

    1. Open Access
      Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
      Elsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl

C

  1. Caputi, Caterina

    1. Open Access
      Ataxia-telangiectasiaA new remitting form with a peculiar transcriptome signature
      Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani

  2. Carlander, Bertrand

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

  3. Chessa, Luciana

    1. Open Access
      Ataxia-telangiectasiaA new remitting form with a peculiar transcriptome signature
      Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani

  4. Chilton, John K.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  5. Chioza, Barry A.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  6. Chretien, Dominique

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

  7. Clot, Fabienne

    1. Open Access
      Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
      Elsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl

  8. Crosby, Andrew H.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

D

  1. D'Agnano, Daniela

    1. Open Access
      Ataxia-telangiectasiaA new remitting form with a peculiar transcriptome signature
      Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani

  2. De Bleecker, Jan

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  3. Deconinck, Tine

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  4. De Jonghe, Peter

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  5. Delettre, Cecile

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

  6. Dobricic, Valerija

    1. Open Access
      WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
      Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger

  7. Dolga, Amalia M.

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

E

  1. Evangelista, Teresinha

    1. Open Access
      Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
      Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

F

  1. Fattal-Valevski, Aviva

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

G

  1. Grier, Johnston

    1. Open Access
      Diagnostic odyssey of patients with mitochondrial diseaseResults of a survey
      Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L.P. Thompson

  2. Guehl, Dominique

    1. Open Access
      Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
      Elsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl

  3. Guissart, Claire

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

H

  1. Hamel, Christian

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

  2. Hardy, Holly

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  3. Hartl, Daniela

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  4. Hirano, Michio

    1. Open Access
      Diagnostic odyssey of patients with mitochondrial diseaseResults of a survey
      Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L.P. Thompson

K

  1. Karaa, Amel

    1. Open Access
      Diagnostic odyssey of patients with mitochondrial diseaseResults of a survey
      Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L.P. Thompson

  2. Klein, Christine

    1. Open Access
      WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
      Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger

  3. Koenig, Michel

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

  4. Krabbendam, Inge E.

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  5. Krim, Elsa

    1. Open Access
      Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
      Elsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl

  6. Kulikovskaja, Leonora

    1. Open Access
      WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
      Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger

  7. Kurz, Alexander

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  8. Kushner, Steven A.

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

L

  1. Larrieu, Lise

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

  2. Lek, Monkol

    1. Open Access
      Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
      Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

  3. Leuzzi, Vincenzo

    1. Open Access
      Ataxia-telangiectasiaA new remitting form with a peculiar transcriptome signature
      Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani

  4. Lochmüller, Hanns

    1. Open Access
      Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
      Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

M

  1. Mademan, Ines

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  2. Magnani, Mauro

    1. Open Access
      Ataxia-telangiectasiaA new remitting form with a peculiar transcriptome signature
      Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani

  3. Mandel, Hanna

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  4. Marelli, Cecilia

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

  5. Margolesky, Jason

    1. Open Access
      Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant
      Jason Margolesky, Mario Saporta

  6. Masalha, Rafik

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  7. May, Patrick

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  8. Mayhaus, Manuel

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  9. McArthur, Daniel

    1. Open Access
      Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
      Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

  10. McEntagart, Meriel M.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  11. Menotta, Michele

    1. Open Access
      Ataxia-telangiectasiaA new remitting form with a peculiar transcriptome signature
      Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani

P

  1. Pichler, Sabrina

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

Q

  1. Quadri, Marialuisa

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  2. Quiles, Melanie

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

R

  1. Riemenschneider, Matthias

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  2. Rivetti, Stefano

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  3. Russell, Mark A.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  4. Rustin, Pierre

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

S

  1. Salter, Claire G.

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  2. Saporta, Mario

    1. Open Access
      Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant
      Jason Margolesky, Mario Saporta

  3. Sarajlija, Adrijan

    1. Open Access
      WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
      Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger

  4. Sarzi, Emmanuelle

    1. Open Access
      ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
      Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart

  5. Savic-Pavicevic, Dusanka

    1. Open Access
      WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
      Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger

  6. Schneider, Jochen G.

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  7. Shepard, Emma

    1. Open Access
      Diagnostic odyssey of patients with mitochondrial diseaseResults of a survey
      Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L.P. Thompson

  8. Spaniol, Christian

    1. Open Access
      Rare ABCA7 variants in 2 German families with Alzheimer disease
      Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

  9. Stevanin, Giovanni

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

T

  1. Tailakh, Muhammad Abu

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  2. Thompson, John L.P.

    1. Open Access
      Diagnostic odyssey of patients with mitochondrial diseaseResults of a survey
      Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L.P. Thompson

  3. Töpf, Ana

    1. Open Access
      Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
      Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

V

  1. van IJcken, Wilfred F.J.

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  2. Vernooij, Meike W.

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

  3. Vrij, Femke M.S. de

    1. Open Access
      ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
      Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

W

  1. Walk, David

    1. Open Access
      Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
      Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

  2. Westenberger, Ana

    1. Open Access
      WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
      Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger
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Neurology Genetics: 4 (2)
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