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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, Vol.90 (12), p.1338-1346

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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Towards a functional pathology of hereditary neuropathies

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

2017

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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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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, Article 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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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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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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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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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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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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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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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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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.354-354

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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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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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

Towards a functional pathology of hereditary neuropathies

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

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

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

Limb girdle muscular dystrophy due to mutations in POMT2

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

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

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

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

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

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

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

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

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