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Congenital myopathies: an update

Developmental medicine and child neurology, 2020-03, Vol.62 (3), p.297-302

Claeys, Kristl G

2020

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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Journal of neurology, 2016-05, Vol.263 (5), p.961-972

2016

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Limb girdle muscular dystrophy due to mutations in POMT2

Journal of neurology, neurosurgery and psychiatry, 2018-05, Vol.89 (5), p.506-512

2018

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Journal of neurology, 2019-03, Vol.266 (3), p.680-690

2019

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NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Acta neuropathologica communications, 2022-12, Vol.10 (1), p.185-185, Article 185

2022

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Small fiber involvement is independent from clinical pain in late-onset Pompe disease

Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.177-177, Article 177

2022

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Serum neurofilament heavy chains as early marker of motor neuron degeneration

Annals of clinical and translational neurology, 2019-10, Vol.6 (10), p.1971-1979

2019

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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Orphanet journal of rare diseases, 2017-11, Vol.12 (1), p.173-173, Article 173

2017

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Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Cells (Basel, Switzerland), 2022-04, Vol.11 (9), p.1508

2022

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Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

Acta neuropathologica, 2009-03, Vol.117 (3), p.293-307

2009

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Comprehensive analysis of the mutation spectrum in 301 German ALS families

Journal of neurology, neurosurgery and psychiatry, 2018-08, Vol.89 (8), p.817-827

2018

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Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Acta neuropathologica, 2019-09, Vol.138 (3), p.477-495

2019

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RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement

European journal of neurology, 2022-01, Vol.29 (1), p.345-349

2022

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Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency

The New England journal of medicine, 2009-07, Vol.361 (4), p.425-427

2009

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Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations

Muscle & nerve, 2016-09, Vol.54 (3), p.496-500

2016

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Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Annals of neurology, 2006-02, Vol.59 (2), p.276-281

2006

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Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)

Muscle & nerve, 2016-08, Vol.54 (2), p.328-333

2016

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Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

Neuromuscular disorders : NMD, 2015-09, Vol.25 (9), p.719-724

2015

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Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy

Journal of neurology, 2013-12, Vol.260 (12), p.3093-3108

2013

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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Orphanet journal of rare diseases, 2014-08, Vol.9 (1), p.121-121, Article 121

2014

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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Skeletal muscle, 2018-07, Vol.8 (1), p.23-23, Article 23

2018

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“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

Acta neuropathologica, 2009-03, Vol.117 (3), p.283-291

2009

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Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

Lancet neurology, 2007-11, Vol.6 (11), p.970-980

2007

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Novel FHL1 mutation in a family with reducing body myopathy

Muscle & nerve, 2013-01, Vol.47 (1), p.127-134

2013

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Congenital myopathies: an update

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Limb girdle muscular dystrophy due to mutations in POMT2

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Small fiber involvement is independent from clinical pain in late-onset Pompe disease

Serum neurofilament heavy chains as early marker of motor neuron degeneration

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

Comprehensive analysis of the mutation spectrum in 301 German ALS families

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

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement

Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

Novel FHL1 mutation in a family with reducing body myopathy

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