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Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis

Brain (London, England : 1878), 2008-06, Vol.131 (6), p.1540-1550

2008

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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

American journal of human genetics, 2011-08, Vol.89 (2), p.219-230

2011

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Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy

The Journal of neuroscience, 2017-08, Vol.37 (32), p.7782-7794

2017

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Identity-by-descent analysis of CMTX3 links three families through a common founder

Journal of human genetics, 2023-01, Vol.68 (1), p.47-49

2023

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The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

American journal of human genetics, 2012-08, Vol.91 (2), p.320-329

2012

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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Nature communications, 2022-11, Vol.13 (1), p.6901-9, Article 6901

2022

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Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

Human molecular genetics, 2012-07, Vol.21 (13), p.2899-2911

2012

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Controversies and priorities in amyotrophic lateral sclerosis

Lancet neurology, 2013-03, Vol.12 (3), p.310-322

2013

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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1252-1266

2017

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Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis

JAMA neurology, 2015-11, Vol.72 (11), p.1268

2015

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Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Science (American Association for the Advancement of Science), 2009-02, Vol.323 (5918), p.1208-1211

2009

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Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Neuron (Cambridge, Mass.), 2017-04, Vol.94 (2), p.322-336.e5

2017

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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

JAMA neurology, 2021-10, Vol.78 (10), p.1236

2021

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Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model

Human molecular genetics, 2021-12, Vol.31 (1), p.133-145

2021

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Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

Molecular neurodegeneration, 2020-09, Vol.15 (1), p.1-51, Article 51

2020

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Axonal ion channel dysfunction in c9orf72 familial amyotrophic lateral sclerosis

JAMA neurology, 2015-01, Vol.72 (1), p.49

2015

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UBQLN2 /ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

Neurobiology of aging, 2012-10, Vol.33 (10), p.2527.e3-2527.e10

2012

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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Science (American Association for the Advancement of Science), 2008-03, Vol.319 (5870), p.1668-1672

2008

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Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy

Brain (London, England : 1878), 2023-03, Vol.146 (3), p.880-897

2023

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Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

The Journal of biological chemistry, 2010-04, Vol.285 (15), p.11178-11187

2010

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Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Nature communications, 2024-07, Vol.15 (1), p.5560-2, Article 5560

2024

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Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3

The FASEB journal, 2024-01, Vol.38 (2), p.e23429-n/a

2024

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RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.e82-e82

2020

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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

Nature genetics, 2011-06, Vol.43 (6), p.595-600

2011

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Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy

Identity-by-descent analysis of CMTX3 links three families through a common founder

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

Controversies and priorities in amyotrophic lateral sclerosis

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

Axonal ion channel dysfunction in c9orf72 familial amyotrophic lateral sclerosis

UBQLN2 /ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

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