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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, Article 154

2024

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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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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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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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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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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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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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Diagnostic challenge and therapeutic dilemma in necrotizing myopathy

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

2013

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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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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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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.66-66, Article 66

2024

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Progressive cardiac dysfunction in Bethlem myopathy during pregnancy

Obstetrics and gynecology (New York. 1953), 2014-02, Vol.123 (2 Pt 2 Suppl 2), p.436-438

2014

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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Orphanet journal of rare diseases, 2014-08, Vol.9 (1), p.121-121, Article 121

2014

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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Skeletal muscle, 2018-07, Vol.8 (1), p.23-23, Article 23

2018

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Epilepsy as part of the phenotype associated with ATP1A2 mutations

Epilepsia (Copenhagen), 2008-03, Vol.49 (3), p.500-508

2008

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Acute but transient neurological deterioration revealing adult polyglucosan body disease

Journal of the neurological sciences, 2013-01, Vol.324 (1), p.179-182

2013

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Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI

Neurology, 2012-12, Vol.79 (23), p.2288-2290

2012

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Fixed Cycle and Q2W Dosing of Intravenous Efgartigimod for gMG: Part A of ADAPT NXT

Neurology, 2024-10, Vol.103 (7_Supplement_1)

2024

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Core-rod myopathy caused by mutations in the nebulin gene

Neurology, 2009-10, Vol.73 (14), p.1159-1161

2009

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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

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

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

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

Neuromuscular hyperexcitability syndromes

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

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

Malignant hyperthermia: still an issue for neuromuscular diseases?

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy

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

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

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Epilepsy as part of the phenotype associated with ATP1A2 mutations

Acute but transient neurological deterioration revealing adult polyglucosan body disease

Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI

Fixed Cycle and Q2W Dosing of Intravenous Efgartigimod for gMG: Part A of ADAPT NXT

Core-rod myopathy caused by mutations in the nebulin gene

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