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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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Automated MRI quantification of volumetric per-muscle fat fractions in the proximal leg of patients with muscular dystrophies

Frontiers in neurology, 2023-05, Vol.14, p.1200727-1200727

2023

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Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months

Annals of clinical and translational neurology, 2022-08, Vol.9 (8), p.1241-1251

2022

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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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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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Patient-reported impact of myasthenia gravis in the real world: findings from a digital observational survey-based study (MyRealWorld MG)

BMJ open, 2023-05, Vol.13 (5), p.e068104-e068104

2023

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Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

PloS one, 2017-01, Vol.12 (1), p.e0170583

2017

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Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG

BMJ open, 2023-01, Vol.13 (1), p.e066445-e066445

2023

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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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Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients

Cells (Basel, Switzerland), 2022-01, Vol.11 (3), p.334

2022

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Neuromuscular hyperexcitability syndromes

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

2021

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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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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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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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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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Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis

Neuromuscular disorders : NMD, 2024-01, Vol.34, p.83-88

2024

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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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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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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

Automated MRI quantification of volumetric per-muscle fat fractions in the proximal leg of patients with muscular dystrophies

Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months

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

Limb girdle muscular dystrophy due to mutations in POMT2

Patient-reported impact of myasthenia gravis in the real world: findings from a digital observational survey-based study (MyRealWorld MG)

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG

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

Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients

Neuromuscular hyperexcitability syndromes

Serum neurofilament heavy chains as early marker of motor neuron degeneration

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

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

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

Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis

Detection of myositis-specific antibodies

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

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