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Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Journal of medical genetics, 2023-07, Vol.60 (7), p.717-721

2023

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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Genetics in medicine, 2023-02, Vol.25 (2), p.100327-100327, Article 100327

2023

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Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome

Human mutation, 2006-11, Vol.27 (11), p.1082-1091

2006

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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Nature genetics, 1999-11, Vol.23 (3), p.296-303

1999

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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1579-1594

2017

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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

Nature genetics, 2000-12, Vol.26 (4), p.480-483

2000

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Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia

Human molecular genetics, 2008-10, Vol.17 (20), p.3166-3179

2008

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Genetics in medicine, 2020-11, Vol.22 (11), p.1851-1862

2020

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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

The Journal of physiology, 2004-02, Vol.554 (3), p.635-647

2004

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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

EBioMedicine, 2024-01, Vol.99, p.104931-104931, Article 104931

2024

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Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

American journal of human genetics, 2002-05, Vol.70 (5), p.1328-1332

2002

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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Genetics in medicine, 2021-10, Vol.23 (10), p.2021-2021

2021

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A Mouse Model of Schwartz-Jampel Syndrome Reveals Myelinating Schwann Cell Dysfunction with Persistent Axonal Depolarization in Vitro and Distal Peripheral Nerve Hyperexcitability When Perlecan Is Lacking

The American journal of pathology, 2012-05, Vol.180 (5), p.2040-2055

2012

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Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

Neuromuscular disorders : NMD, 2013-12, Vol.23 (12), p.998-1009

2013

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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Human molecular genetics, 2000-03, Vol.9 (4), p.637-644

2000

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Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009]

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.371-371

2014

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A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34

American journal of human genetics, 2000-02, Vol.66 (2), p.702-707

2000

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331

2021

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1337-1347

2021

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SCA27B/FGF14 : une ataxie peut en cacher une autre

Revue neurologique, 2024-04, Vol.180, p.S69-S69

2024

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Response to Park et al

Genetics in medicine, 2021-06, Vol.23 (6), p.1173-1174

2021

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Solving unsolved rare neurological diseases-a Solve-RD viewpoint

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1332-1336

2021

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Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

A Mouse Model of Schwartz-Jampel Syndrome Reveals Myelinating Schwann Cell Dysfunction with Persistent Axonal Depolarization in Vitro and Distal Peripheral Nerve Hyperexcitability When Perlecan Is Lacking

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009]

A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

SCA27B/FGF14 : une ataxie peut en cacher une autre

Response to Park et al

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

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