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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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Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy

Acta neuropathologica, 2024-07, Vol.148 (1), p.6, Article 6

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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A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule

Neurology. Genetics, 2024-10, Vol.10 (5), p.e200185

2024

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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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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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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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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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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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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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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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Paranodal Antibodies Against Contactin-1, Neurofascin-155 and Neurofascin-186 in Neuromuscular Disorders Other Than Chronic Inflammatory Demyelinating Polyradiculoneuropathy

European journal of rheumatology, 2024-05, Vol.27 (S2), p.S216

2024

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Paranodal Antibodies Against Contactin-1, Neurofascin-155 and Neurofascin-186 in Neuromuscular Disorders Other Than Chronic Inflammatory Demyelinating Polyradiculoneuropathy

European journal of rheumatology, 2024-05, Vol.11 (S2), p.S216

2024

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

European journal of rheumatology, 2024-05, Vol.27 (S2), p.S215

2024

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

European journal of rheumatology, 2024-05, Vol.11 (S2), p.S215

2024

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

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

Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy

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

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

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule

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

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

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

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]

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

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

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

Paranodal Antibodies Against Contactin-1, Neurofascin-155 and Neurofascin-186 in Neuromuscular Disorders Other Than Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Paranodal Antibodies Against Contactin-1, Neurofascin-155 and Neurofascin-186 in Neuromuscular Disorders Other Than Chronic Inflammatory Demyelinating Polyradiculoneuropathy

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

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

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

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