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

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

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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Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.154-154

2024

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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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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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Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.86-86, Article 86

2017

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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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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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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.11-11, Article 11

2020

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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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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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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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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

2023

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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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Clinical and biometrical 12-month follow-up in patients after reconstruction of the sural nerve biopsy defect by the collagen-based nerve guide Neuromaix

European journal of medical research, 2017-09, Vol.22 (1), p.34-34, Article 34

2017

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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

2021

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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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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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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

2022

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Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients

Acta neurologica Belgica, 2019-03, Vol.119 (1), p.29-36

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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Congenital myopathies: an update

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

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

Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease

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

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

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

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

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

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

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

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

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

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

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

Clinical and biometrical 12-month follow-up in patients after reconstruction of the sural nerve biopsy defect by the collagen-based nerve guide Neuromaix

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

Neuromuscular hyperexcitability syndromes

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

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

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

Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients

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

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