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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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Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome

JAMA neurology, 2017-01, Vol.74 (1), p.26

2017

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Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Journal of neurology, neurosurgery and psychiatry, 2019-12, p.jnnp-2018-319586

2019

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Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy

Neurology, 2015-03, Vol.84 (13), p.1346-1354

2015

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Towards a functional pathology of hereditary neuropathies

Acta Neuropathologica, 2017-04, Vol.133 (4), p.493-515

2017

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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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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Human mutation, 2021-03, Vol.42 (3), p.310-319

2021

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Test–retest reliability and follow‐up of muscle magnetic resonance elastography in adults with and without muscle diseases

Journal of cachexia, sarcopenia and muscle, 2024-10, Vol.15 (5), p.1761-1771

2024

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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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Histopathological correlations and fat replacement imaging patterns in recessive limb‐girdle muscular dystrophy type 12

Journal of cachexia, sarcopenia and muscle, 2023-06, Vol.14 (3), p.1468-1481

2023

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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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Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis

Journal of neurology, 2017-06, Vol.264 (6), p.1193-1203

2017

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Author Response: Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures

Neurology, 2023-02, Vol.100 (7), p.354-354

2023

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Neuromuscular hyperexcitability syndromes

Current opinion in neurology, 2021-10, Vol.34 (5), p.714-720

2021

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Validation of an Artificial Intelligence driven framework to automatically detect red flag symptoms in screening for rare diseases in electronic health records: hereditary transthyretin amyloidosis polyneuropathy as a key example

Journal of the peripheral nervous system, 2023-03, Vol.28 (1), p.79-85

2023

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Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2018-04, Vol.89 (4), p.367-373

2018

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Diagnostic challenge and therapeutic dilemma in necrotizing myopathy

Neurology, 2013-09, Vol.81 (10), p.932-935

2013

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Malignant hyperthermia: still an issue for neuromuscular diseases?

Current opinion in neurology, 2018-10, Vol.31 (5), p.628-634

2018

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Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease

Neurology, 2017-06, Vol.88 (24), p.2302-2309

2017

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Detection of myositis-specific antibodies

Annals of the rheumatic diseases, 2019-01, Vol.78 (1), p.e7-e7

2019

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Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4

Journal of neurology, 2021-03, Vol.268 (3), p.923-935

2021

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Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures

Neurology, 2022-08, Vol.99 (6), p.e638

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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Neuropathy of the phrenic nerve associated with antiganglioside antibodies

European journal of neurology, 2021-06, Vol.28 (6), p.2138-2141

2021

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Congenital myopathies: an update

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy

Towards a functional pathology of hereditary neuropathies

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

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Test–retest reliability and follow‐up of muscle magnetic resonance elastography in adults with and without muscle diseases

Limb girdle muscular dystrophy due to mutations in POMT2

Histopathological correlations and fat replacement imaging patterns in recessive limb‐girdle muscular dystrophy type 12

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

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis

Author Response: Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures

Neuromuscular hyperexcitability syndromes

Validation of an Artificial Intelligence driven framework to automatically detect red flag symptoms in screening for rare diseases in electronic health records: hereditary transthyretin amyloidosis polyneuropathy as a key example

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy

Malignant hyperthermia: still an issue for neuromuscular diseases?

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease

Detection of myositis-specific antibodies

Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4

Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures

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

Neuropathy of the phrenic nerve associated with antiganglioside antibodies

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