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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Nature genetics, 2012-05, Vol.44 (5), p.575-580

2012

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Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

Human mutation, 2015-01, Vol.36 (1), p.48-56

2015

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SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Frontiers in neurology, 2021-05, Vol.12, p.663911-663911

2021

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Dominant collagen XII mutations cause a distal myopathy

Annals of clinical and translational neurology, 2019-10, Vol.6 (10), p.1980-1988

2019

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Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1460-n/a

2020

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A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

Case reports in neurological medicine, 2020-08, Vol.2020 (2020), p.1-3

2020

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Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

Annals of neurology, 2011-01, Vol.69 (1), p.206-211

2011

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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes

Human mutation, 2018-10, Vol.39 (10), p.1314-1337

2018

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Anticholinesterase Therapy Worsening Head Drop and Limb Weakness Due to a Novel DOK7 Mutation

Journal of clinical neuromuscular disease, 2015-12, Vol.17 (2), p.72-77

2015

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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Journal of neurology, neurosurgery and psychiatry, 2024-02, Vol.95 (2), p.103-113

2024

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Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Human mutation, 2014-12, Vol.35 (12), p.1418-1426

2014

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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy

Neuromuscular disorders : NMD, 2024-01, Vol.34, p.32-40

2024

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Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

Human mutation, 2009-09, Vol.30 (9), p.1267-1277

2009

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Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

Neuromuscular disorders : NMD, 2012-01, Vol.22 (1), p.13-15

2012

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Centronuclear myopathy with cardiomyopathy due to recessive titinopathy

Muscle & nerve, 2019-04, Vol.59 (4), p.E26-E27

2019

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Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Human mutation, 2013-11, Vol.34 (11), p.1558-1567

2013

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Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

Neuromuscular disorders : NMD, 2009-05, Vol.19 (5), p.352-356

2009

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Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders

Genetic testing and molecular biomarkers, 2020-10, Vol.24 (10), p.616-624

2020

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Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

Muscle & nerve, 2014-10, Vol.50 (4), p.610-613

2014

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GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Human mutation, 2015-12, Vol.36 (12), p.1159-1163

2015

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Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families

Prenatal diagnosis, 2009-06, Vol.29 (6), p.560-569

2009

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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly

Journal of medical genetics, 2014-06, Vol.51 (6), p.413-418

2014

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Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

Neurology. Genetics, 2020-04, Vol.6 (2), p.e412-e412

2020

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Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.508-521

2013

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Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

Neurology, 2015-04, Vol.84 (14), p.1495-1497

2015

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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Dominant collagen XII mutations cause a distal myopathy

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes

Anticholinesterase Therapy Worsening Head Drop and Limb Weakness Due to a Novel DOK7 Mutation

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy

Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

Centronuclear myopathy with cardiomyopathy due to recessive titinopathy

Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

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