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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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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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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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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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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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Neuromuscular hyperexcitability syndromes

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

2021

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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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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

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

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)

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

Serum neurofilament heavy chains as early marker of motor neuron degeneration

Neuromuscular hyperexcitability syndromes

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

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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