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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

Human molecular genetics, 2010-02, Vol.19 (4), p.671-683

2010

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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

American journal of human genetics, 2016-05, Vol.98 (5), p.1038-1046

2016

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Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids

PLoS genetics, 2023-02, Vol.19 (2), p.e1010606-e1010606

2023

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.385-391

2013

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Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Human molecular genetics, 2015-03, Vol.24 (5), p.1363-1373

2015

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Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

Frontiers in genetics, 2019-11, Vol.10, p.1219-1219

2019

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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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Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

PloS one, 2019-11, Vol.14 (11), p.e0225186-e0225186

2019

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Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

Science signaling, 2016-03, Vol.9 (421), p.ra32

2016

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Nature genetics, 1998-02, Vol.18 (2), p.164-167

1998

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Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

Frontiers in genetics, 2020-07, Vol.11, p.813-813

2020

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Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

The Journal of clinical investigation, 2008-07, Vol.118 (7), p.2496-2505

2008

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CRISPR/CAS9 system corrects PABPN1 mutation in oculopharyngeal muscular dystrophy

Journal of the neurological sciences, 2023-12, Vol.455, p.121728, Article 121728

2023

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Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.749-756

2013

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Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

Neurobiology of disease, 2007-06, Vol.26 (3), p.546-557

2007

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CACNA1A mutations in essential tremor lead to dysregulation of neuron exocytosis machinery

Journal of the neurological sciences, 2023-12, Vol.455, p.121727, Article 121727

2023

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Recombinant Congenic Strains Derived from A/J and C57BL/6J: A Tool for Genetic Dissection of Complex Traits

Genomics (San Diego, Calif.), 2001-05, Vol.74 (1), p.21-35

2001

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Cerebellar oligodendrocytes as key initial players in essential tremor pathophysiology

Journal of the neurological sciences, 2023-12, Vol.455, p.121142, Article 121142

2023

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Huntington's disease in an African family

Journal of the neurological sciences, 2023-12, Vol.455, p.121937, Article 121937

2023

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Transgenic expression of an expanded (GCG) 13 repeat PABPN1 leads to weakness and coordination defects in mice

Neurobiology of disease, 2005-04, Vol.18 (3), p.528-536

2005

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Proceedings of the National Academy of Sciences - PNAS, 2010-04, Vol.107 (17), p.7863-7868

2010

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RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

American journal of human genetics, 2016-11, Vol.99 (5), p.1072-1085

2016

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SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1520-1528

2020

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CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations

Annals of neurology, 2004-05, Vol.55 (5), p.757-758

2004

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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

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

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

CRISPR/CAS9 system corrects PABPN1 mutation in oculopharyngeal muscular dystrophy

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

CACNA1A mutations in essential tremor lead to dysregulation of neuron exocytosis machinery

Recombinant Congenic Strains Derived from A/J and C57BL/6J: A Tool for Genetic Dissection of Complex Traits

Cerebellar oligodendrocytes as key initial players in essential tremor pathophysiology

Huntington's disease in an African family

Transgenic expression of an expanded (GCG) 13 repeat PABPN1 leads to weakness and coordination defects in mice

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations

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