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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, 2024-06

2024

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White matter brain lesions in infantile-onset Pompe disease are not metabolically active using 18F-FDG PET/MR imaging

Neuromuscular disorders : NMD, 2020-09, Vol.30 (9), p.732-733

2020

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Detection of multiple myositis-specific autoantibodies in unique patients with idiopathic inflammatory myopathy: A single centre-experience and literature review: Systematic review

Seminars in arthritis and rheumatism, 2021-04, Vol.51 (2), p.486-494

2021

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Peptides From the Variable Domain of Immunoglobulin G as Biomarkers in Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Neurology : neuroimmunology & neuroinflammation, 2023-11, Vol.10 (6)

2023

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Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

Neuromuscular disorders : NMD, 2015-09, Vol.25 (9), p.719-724

2015

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Patient-reported impact of myasthenia gravis in the real world: protocol for a digital observational study (MyRealWorld MG)

BMJ open, 2021-07, Vol.11 (7), p.e048198

2021

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A Patient with neonatal cholestasis

Journal of Mother and Child, 2021-07, Vol.24 (4), p.31-33

2021

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

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108032, Article 108032

2024

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Erratum to ‘Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia’ [Neuromuscular Disorders 19 (2009) 316–323]

Neuromuscular disorders : NMD, 2011-03, Vol.21 (3), p.e1-e1

2011

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Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107971, Article 107971

2024

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Switching treatment to cipaglucosidase alfa plus miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108059, Article 108059

2024

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Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

Human genetics, 2006, Vol.118 (5), p.618-625

2006

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Detection of multiple myositis-specific autoantibodies in unique patients with idiopathic inflammatory myopathy: A single centre-experience and literature review

Seminars in arthritis and rheumatism, 2021-04, Vol.51 (2), p.486-494

2021

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The Cranial Nerves in Neurology: A comprehensive and systematic evaluation of cranial nerves, pathology and specific conditions

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Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP): Novel Insights in NARP/MILS

Muscle & nerve, 2016-08, Vol.54 (2), p.328-333

2016

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A Higher Order Motion Region in Human Inferior Parietal Lobule

Neuron (Cambridge, Mass.), 2003-10, Vol.40 (3), p.631-642

2003

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Unraveling the genetics of distal hereditary motor neuronopathies

Neuromolecular medicine, 2006-03, Vol.8 (1-2), p.131-146

2006

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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 : JPNS, 2023, Vol.28 (1), p.79-85

2023

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Epilepsy as part of the phenotype associated with ATPIA2 mutations

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

2008

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Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients

Human mutation, 2006-09, Vol.27 (9), p.914-920

2006

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Neuropathy of the phrenic nerve associated with antiganglioside antibodies

European journal of neurology, 2021, Vol.28 (6), p.2138-2141

2021

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Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation

Neuromuscular disorders : NMD, 2020, Vol.30 (9), p.709-718

2020

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PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

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

White matter brain lesions in infantile-onset Pompe disease are not metabolically active using 18F-FDG PET/MR imaging

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Detection of multiple myositis-specific autoantibodies in unique patients with idiopathic inflammatory myopathy: A single centre-experience and literature review: Systematic review

Peptides From the Variable Domain of Immunoglobulin G as Biomarkers in Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

Patient-reported impact of myasthenia gravis in the real world: protocol for a digital observational study (MyRealWorld MG)

A Patient with neonatal cholestasis

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

Erratum to ‘Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia’ [Neuromuscular Disorders 19 (2009) 316–323]

Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL

Switching treatment to cipaglucosidase alfa plus miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

Detection of multiple myositis-specific autoantibodies in unique patients with idiopathic inflammatory myopathy: A single centre-experience and literature review

The Cranial Nerves in Neurology: A comprehensive and systematic evaluation of cranial nerves, pathology and specific conditions

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP): Novel Insights in NARP/MILS

A Higher Order Motion Region in Human Inferior Parietal Lobule

Unraveling the genetics of distal hereditary motor neuronopathies

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

Epilepsy as part of the phenotype associated with ATPIA2 mutations

Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients

Neuropathy of the phrenic nerve associated with antiganglioside antibodies

Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation

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