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MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy

Clinical genetics, 2019-01, Vol.95 (1), p.182-186

2019

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Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

Annals of neurology, 2005-03, Vol.57 (3), p.415-424

2005

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Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

Human molecular genetics, 2007-12, Vol.16 (23), p.2816-2833

2007

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Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

American journal of human genetics, 2010-10, Vol.87 (4), p.513-522

2010

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.574-583

2021

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Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Neuromuscular disorders : NMD, 2007-10, Vol.17 (9), p.698-706

2007

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A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients

Brain (London, England : 1878), 2012-01, Vol.135 (1), p.72-87

2012

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HIV-Associated Cerebellar Dysfunction and Improvement with Aminopyridine Therapy: A Case Report

Case reports in neurology, 2017-05, Vol.9 (2), p.121-126

2017

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The long-term outcome of anti-Jo-1-positive inflammatory myopathies

Journal of neurology, 2004-07, Vol.251 (7), p.859-864

2004

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Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.26-26

2013

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Immune-mediated / inflammatory and hereditary neuropathies - overview and diagnostic algorithm

Fortschritte der Neurologie-Psychiatrie, 2018-09, Vol.86 (9), p.566

2018

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Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophy

Neuromuscular disorders : NMD, 2005-01, Vol.15 (1), p.40-44

2005

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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

Neurology, 2016-07, Vol.87 (3), p.295

2016

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The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy: A case series

Neurology, 2020-09, Vol.95 (11), p.e1512

2020

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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

Neurology, 2020-12, Vol.95 (24), p.e3163

2020

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Intraepidermal nerve fibre density as biomarker in Charcot–Marie–Tooth disease type 1A

Brain communications, 2020-01, Vol.2 (1), p.fcaa012-fcaa012

2020

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Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

Journal of neurology, neurosurgery and psychiatry, 2017-11, Vol.88 (11), p.941

2017

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The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

Neuromolecular medicine, 2016-03, Vol.18 (1), p.81-90

2016

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A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

Neuromuscular disorders : NMD, 2003-12, Vol.13 (10), p.830-834

2003

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Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

Journal of the neurological sciences, 2007-12, Vol.263 (1), p.100-106

2007

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MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients

HIV-Associated Cerebellar Dysfunction and Improvement with Aminopyridine Therapy: A Case Report

The long-term outcome of anti-Jo-1-positive inflammatory myopathies

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

Immune-mediated / inflammatory and hereditary neuropathies - overview and diagnostic algorithm

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophy

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy: A case series

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

Intraepidermal nerve fibre density as biomarker in Charcot–Marie–Tooth disease type 1A

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

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