A
Adams, Michael C.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Amin, Krunal
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Avramopoulos, Dimitrios
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
B
Basak, A. Nazli
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
Benedet, Andréa L.
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Bennett, David A.
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Berg, Jonathan S.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Bilguvar, Kaya
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
Bizon, Christopher
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Brandt, Alicia
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Bras, Jose
- Open AccessLate-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian familySarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste
Brice, Alexis
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Burglen, Lydie
- Open AccessAP4 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
Burns, Kathleen H.
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
C
Caglayan, Ahmet Okay
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
Camargos, Sarah
- Open AccessLate-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian familySarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste
Chahin, Nizar
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Charif, Majida
- Open AccessAP4 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
Coutelier, Marie
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Crooks, Kristy R.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
De Ferrari, Giancarlo V.
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
de Koning, Tom J.
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
Durr, Alexandra
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Echenne, Bernard
- Open AccessAP4 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
Evans, James P.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Fan, Zheng
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Gauthier, Serge
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Goizet, Cyril
- Open AccessAP4 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
Gourari, Ioulia
- Open Access1q21.1 Duplication syndrome and epilepsyCase report and reviewIoulia Gourari, Romaine Schubert, Aparna Prasad
Greenwood, Robert S.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Guerreiro, Rita
- Open AccessLate-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian familySarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste
Guissart, Claire
- Open AccessAP4 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
Gundogdu, Asli
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
Guzman Badillo, Roberto J.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Hamel, Christian P.
- Open AccessAP4 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
Hammerschmidt, Matthias
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Haskell, Gloria T.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Hieu, Nelson
- Open AccessAP4 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
Hoke, Ahmet
- Open AccessNovel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathyRicardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke
Horvath, Rita
- Open AccessAP4 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
Hosseinibarkooie, Seyyedmohsen
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Isidor, Bertrand
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
J
Janzen, Eva
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Johnson, Nicholas Elwood
- Open Access2017 Year in Review and Message from the Editors to Our ReviewersStefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
K
Kahraman-Koytak, Pinar
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
Kaivola, Karri
- Open AccessAlzheimer 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
Kang, Min-Su
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Karakaya, Mert
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Kiziltan, Gunes
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
Klein, Christopher J.
- Open AccessNovel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathyRicardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke
Kocaman, Gulsen
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
Kocoglu, Cemile
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
L
Labbe, Aurélie
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Lal, Dennis
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
Leboucq, Nicolas
- Open AccessAP4 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
Lenaers, Guy
- Open AccessAP4 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
Levy, Michael
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
Löhr, Heiko
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Mageste, Luis Sergio
- Open AccessLate-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian familySarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste
Mäkelä, Mira
- Open AccessAlzheimer 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
Manes, Gael
- Open AccessAP4 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
Marelli, Cecilia
- Open AccessAP4 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
Mathotaarachchi, Sulantha
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
McCray, Brett A.
- Open AccessNovel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathyRicardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke
Mealy, Maureen A.
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
Mendoza-Ferreira, Natalia
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Meyer, Pierre
- Open AccessAP4 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
Milbradt, Janine
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Milko, Laura V.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Mourmans, Jeroen
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
Myllykangas, Liisa
- Open AccessAlzheimer 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
Nam, Tai-Seung
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
Neubauer, Bernd A.
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
Nürnberg, Peter
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
P
Paetau, Anders
- Open AccessAlzheimer 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
Pandolfo, Massimo
- Open Access2017 Year in Review and Message from the Editors to Our ReviewersStefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
Pardo, Carlos A.
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
Pardo, Santiago J.
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
Pascoal, Tharick A.
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Pérez-Palma, Eduardo
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
Peuralinna, Terhi
- Open AccessAlzheimer 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
Pichlo, Christian
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Poirier, Judes
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Polvikoski, Tuomo
- Open AccessAlzheimer 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
Prasad, Aparna
- Open Access1q21.1 Duplication syndrome and epilepsyCase report and reviewIoulia Gourari, Romaine Schubert, Aparna Prasad
Pulst, Stefan M.
- Open Access2017 Year in Review and Message from the Editors to Our ReviewersStefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
R
Ravoet, Marie
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
Riessland, Markus
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Rivier, François
- Open AccessAP4 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
Roda, Ricardo H.
- Open AccessNovel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathyRicardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke
Roos, Raymond P.
- Open Access2017 Year in Review and Message from the Editors to Our ReviewersStefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
Rosa-Neto, Pedro
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Roubertie, Agathe
- Open AccessAP4 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
Rouleau, Guy A.
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Roux, Charles-Joris
- Open AccessAP4 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
Saarentaus, Elmo
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
Schneider, Svenja
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Schubert, Romaine
- Open Access1q21.1 Duplication syndrome and epilepsyCase report and reviewIoulia Gourari, Romaine Schubert, Aparna Prasad
Shiloh-Malawsky, Yael
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Shin, Monica
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Singleton, Andrew
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Singleton, Andrew B.
- Open AccessAlzheimer 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
Sobreira, Nara L.
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
Stevanin, Giovanni
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Stone, David J.
- Open AccessAlzheimer 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
Strande, Natasha
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Tanskanen, Maarit
- Open AccessAlzheimer 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
Tennison, Michael
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Tienari, Pentti J.
- Open AccessAlzheimer 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
Tijssen, Marina A.J.
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
Tilley, Christian R.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Tolosa, Eduardo
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
Torres-Benito, Laura
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Traynor, Bryan J.
- Open AccessAlzheimer 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
Uluc, Kayihan
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
V
Valle, David
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
Valori, Miko
- Open AccessAlzheimer 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
Vance, Jeffery M.
- Open Access2017 Year in Review and Message from the Editors to Our ReviewersStefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
van der Hout, Annemarie H.
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
Vansenne, Fleur
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
Vural, Atay
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
W
Waalkens, Anne J.E.
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
Weck, Karen
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Wilhelmsen, Kirk C.
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Wirth, Brunhilde
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Yu, Lei
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa 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
Zhou, Linran
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria 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
Zuchner, Stephan
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia 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
Zutt, Rodi
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne 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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