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February 2018; 4 (1)

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A

  1. Adams, Michael C.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  2. Amin, Krunal

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  3. Avramopoulos, Dimitrios

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

B

  1. Basak, A. Nazli

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

  2. Benedet, Andréa L.

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  3. Bennett, David A.

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  4. Berg, Jonathan S.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  5. Bilguvar, Kaya

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

  6. Bizon, Christopher

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  7. Brandt, Alicia

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  8. Bras, Jose

    1. Open Access
      Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
      Sarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste

  9. Brice, Alexis

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  10. Burglen, Lydie

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  11. Burns, Kathleen H.

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

C

  1. Caglayan, Ahmet Okay

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

  2. Camargos, Sarah

    1. Open Access
      Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
      Sarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste

  3. Chahin, Nizar

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  4. Charif, Majida

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  5. Coutelier, Marie

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  6. Crooks, Kristy R.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

D

  1. De Ferrari, Giancarlo V.

    1. Open Access
      Duplications at 19q13.33 in patients with neurodevelopmental disorders
      Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

  2. de Koning, Tom J.

    1. Open Access
      Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
      Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen

  3. Durr, Alexandra

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

E

  1. Echenne, Bernard

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  2. Evans, James P.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

F

  1. Fan, Zheng

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

G

  1. Gauthier, Serge

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  2. Goizet, Cyril

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  3. Gourari, Ioulia

    1. Open Access
      1q21.1 Duplication syndrome and epilepsyCase report and review
      Ioulia Gourari, Romaine Schubert, Aparna Prasad

  4. Greenwood, Robert S.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  5. Guerreiro, Rita

    1. Open Access
      Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
      Sarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste

  6. Guissart, Claire

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  7. Gundogdu, Asli

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

  8. Guzman Badillo, Roberto J.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

H

  1. Hamel, Christian P.

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  2. Hammerschmidt, Matthias

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  3. Haskell, Gloria T.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  4. Hieu, Nelson

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  5. Hoke, Ahmet

    1. Open Access
      Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
      Ricardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke

  6. Horvath, Rita

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  7. Hosseinibarkooie, Seyyedmohsen

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

I

  1. Isidor, Bertrand

    1. Open Access
      Duplications at 19q13.33 in patients with neurodevelopmental disorders
      Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

J

  1. Janzen, Eva

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  2. Johnson, Nicholas Elwood

    1. Open Access
      2017 Year in Review and Message from the Editors to Our Reviewers
      Stefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance

K

  1. Kahraman-Koytak, Pinar

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

  2. Kaivola, Karri

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  3. Kang, Min-Su

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  4. Karakaya, Mert

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  5. Kiziltan, Gunes

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

  6. Klein, Christopher J.

    1. Open Access
      Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
      Ricardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke

  7. Kocaman, Gulsen

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

  8. Kocoglu, Cemile

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

L

  1. Labbe, Aurélie

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  2. Lal, Dennis

    1. Open Access
      Duplications at 19q13.33 in patients with neurodevelopmental disorders
      Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

  3. Leboucq, Nicolas

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  4. Lenaers, Guy

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  5. Levy, Michael

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

  6. Löhr, Heiko

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

M

  1. Mageste, Luis Sergio

    1. Open Access
      Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
      Sarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste

  2. Mäkelä, Mira

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  3. Manes, Gael

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  4. Marelli, Cecilia

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  5. Mathotaarachchi, Sulantha

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  6. McCray, Brett A.

    1. Open Access
      Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
      Ricardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke

  7. Mealy, Maureen A.

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

  8. Mendoza-Ferreira, Natalia

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  9. Meyer, Pierre

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  10. Milbradt, Janine

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  11. Milko, Laura V.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  12. Mourmans, Jeroen

    1. Open Access
      Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
      Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen

  13. Myllykangas, Liisa

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

N

  1. Nam, Tai-Seung

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

  2. Neubauer, Bernd A.

    1. Open Access
      Duplications at 19q13.33 in patients with neurodevelopmental disorders
      Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

  3. Nürnberg, Peter

    1. Open Access
      Duplications at 19q13.33 in patients with neurodevelopmental disorders
      Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

P

  1. Paetau, Anders

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  2. Pandolfo, Massimo

    1. Open Access
      2017 Year in Review and Message from the Editors to Our Reviewers
      Stefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance

  3. Pardo, Carlos A.

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

  4. Pardo, Santiago J.

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

  5. Pascoal, Tharick A.

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  6. Pérez-Palma, Eduardo

    1. Open Access
      Duplications at 19q13.33 in patients with neurodevelopmental disorders
      Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

  7. Peuralinna, Terhi

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  8. Pichlo, Christian

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  9. Poirier, Judes

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  10. Polvikoski, Tuomo

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  11. Prasad, Aparna

    1. Open Access
      1q21.1 Duplication syndrome and epilepsyCase report and review
      Ioulia Gourari, Romaine Schubert, Aparna Prasad

  12. Pulst, Stefan M.

    1. Open Access
      2017 Year in Review and Message from the Editors to Our Reviewers
      Stefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance

R

  1. Ravoet, Marie

    1. Open Access
      Duplications at 19q13.33 in patients with neurodevelopmental disorders
      Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

  2. Riessland, Markus

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  3. Rivier, François

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  4. Roda, Ricardo H.

    1. Open Access
      Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
      Ricardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke

  5. Roos, Raymond P.

    1. Open Access
      2017 Year in Review and Message from the Editors to Our Reviewers
      Stefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance

  6. Rosa-Neto, Pedro

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  7. Roubertie, Agathe

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

  8. Rouleau, Guy A.

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  9. Roux, Charles-Joris

    1. Open Access
      AP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?
      Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

S

  1. Saarentaus, Elmo

    1. Open Access
      Duplications at 19q13.33 in patients with neurodevelopmental disorders
      Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal

  2. Schneider, Svenja

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  3. Schubert, Romaine

    1. Open Access
      1q21.1 Duplication syndrome and epilepsyCase report and review
      Ioulia Gourari, Romaine Schubert, Aparna Prasad

  4. Shiloh-Malawsky, Yael

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  5. Shin, Monica

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

  6. Singleton, Andrew

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  7. Singleton, Andrew B.

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  8. Sobreira, Nara L.

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

  9. Stevanin, Giovanni

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  10. Stone, David J.

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  11. Strande, Natasha

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

T

  1. Tanskanen, Maarit

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  2. Tennison, Michael

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  3. Tienari, Pentti J.

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  4. Tijssen, Marina A.J.

    1. Open Access
      Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
      Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen

  5. Tilley, Christian R.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  6. Tolosa, Eduardo

    1. Open Access
      Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
      Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen

  7. Torres-Benito, Laura

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  8. Traynor, Bryan J.

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

U

  1. Uluc, Kayihan

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

V

  1. Valle, David

    1. Open Access
      Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
      Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy

  2. Valori, Miko

    1. Open Access
      Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
      Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas

  3. Vance, Jeffery M.

    1. Open Access
      2017 Year in Review and Message from the Editors to Our Reviewers
      Stefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance

  4. van der Hout, Annemarie H.

    1. Open Access
      Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
      Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen

  5. Vansenne, Fleur

    1. Open Access
      Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
      Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen

  6. Vural, Atay

    1. Open Access
      Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
      Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak

W

  1. Waalkens, Anne J.E.

    1. Open Access
      Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
      Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen

  2. Weck, Karen

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  3. Wilhelmsen, Kirk C.

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  4. Wirth, Brunhilde

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

Y

  1. Yu, Lei

    1. Open Access
      CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
      Andréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative

Z

  1. Zhou, Linran

    1. Open Access
      Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
      Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg

  2. Zuchner, Stephan

    1. Open Access
      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
      Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth

  3. Zutt, Rodi

    1. Open Access
      Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
      Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
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Neurology Genetics: 4 (1)
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