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RYR1-related myopathies: a wide spectrum of phenotypes throughout life

European journal of neurology, 2015-07, Vol.22 (7), p.1094-1112

2015

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The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Journal of neurology, 2019-04, Vol.266 (4), p.876-887

2019

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Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

Acta neurologica Scandinavica, 2018-05, Vol.137 (5), p.452-461

2018

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.540-548

2013

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A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study

BMC neurology, 2024-10, Vol.24 (1), p.409-11, Article 409

2024

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Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene

Journal of the neurological sciences, 2017-07, Vol.378, p.175-176

2017

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Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

Neuromuscular disorders : NMD, 2019-01, Vol.29 (1), p.30-38

2019

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Hereditary spastic paraplegia caused by a mutation in the VCP gene

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.e223-e223

2012

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Autosomal recessive inheritance of GLUT1 deficiency syndrome

Neuropediatrics, 2009-10, Vol.40 (5), p.207-210

2009

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The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant

Neuromuscular disorders : NMD, 2024-02, Vol.35, p.40-41

2024

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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Nature genetics, 1996-04, Vol.12 (4), p.445-447

1996

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An E280K Missense Variant in KCND3 /Kv4.3-Case Report and Functional Characterization

International journal of molecular sciences, 2023-07, Vol.24 (13), p.10924

2023

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Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

Neuromuscular disorders : NMD, 2018-05, Vol.28 (5), p.402-407

2018

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The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

European journal of neurology, 2021-02, Vol.28 (2), p.647-659

2021

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Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene

European journal of endocrinology, 2011-07, Vol.165 (1), p.161-165

2011

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Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

Clinical genetics, 2008-08, Vol.74 (2), p.145-154

2008

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The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers

The Journal of cell biology, 2000-11, Vol.151 (4), p.919-929

2000

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HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review

Neuromuscular disorders : NMD, 2020-12, Vol.30 (12), p.949-958

2020

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RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia

British journal of anaesthesia : BJA, 2021-08, Vol.127 (2), p.e63-e65

2021

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Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Journal of genetic counseling, 2016-12, Vol.25 (6), p.1207-1214

2016

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Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

Neuropediatrics, 2020-04, Vol.51 (2), p.146-153

2020

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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Case reports in genetics, 2017-01, Vol.2017 (2017), p.1-5

2017

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Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients

Neuromuscular disorders : NMD, 2012-11, Vol.22 (11), p.944-954

2012

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An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

The Journal of clinical investigation, 1998-07, Vol.102 (1), p.57-66

1998

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RYR1-related myopathies: a wide spectrum of phenotypes throughout life

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study

Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

Hereditary spastic paraplegia caused by a mutation in the VCP gene

Autosomal recessive inheritance of GLUT1 deficiency syndrome

The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

An E280K Missense Variant in KCND3 /Kv4.3-Case Report and Functional Characterization

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers

HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review

RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

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