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

Human molecular genetics, 2013-10, Vol.22 (20), p.4224-4232

2013

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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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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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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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Late onset necrotizing autoimmune myopathy 1 year after cessation of statin treatment

Acta neurologica Belgica, 2019, Vol.119 (3), p.487-489

2019

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Cranial Nerves and Myopathies

The Cranial Nerves in Neurology, p.195-201

Claeys, Kristl G.

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Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

Neuromuscular disorders : NMD, 2009, Vol.19 (11), p.802-802

2009

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Muscle glycogenosis due to phosphoglucomutase 1 deficiency

The New England journal of medicine, 2009, Vol.361 (4), p.425-427

2009

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Genetics in medicine, 2020-09, Vol.22 (9), p.1478-1488

2020

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169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2011-05, Vol.21 (5), p.363-374

2011

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The neural correlate of a higher-order feature-tracking motion system revealed by fMRI

Journal of vision (Charlottesville, Va.), 2010-03, Vol.3 (9), p.790-790

2010

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

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

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

A Higher Order Motion Region in Human Inferior Parietal Lobule

Unraveling the genetics of distal hereditary motor neuronopathies

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

Late onset necrotizing autoimmune myopathy 1 year after cessation of statin treatment

Cranial Nerves and Myopathies

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

The neural correlate of a higher-order feature-tracking motion system revealed by fMRI

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