Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
The expanding genetic landscape of hereditary motor neuropathies
Beijer D, Baets J
Brain : a journal of neurology, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
Senderek J, Lassuthova P, Kabzinska D, et al.
Neurology, 2020
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures
Vanherpe P, Fieuws S, D'Hondt A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 83
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
Mendoza-Ferreira N, Karakaya M, Cengiz N, et al.
American journal of human genetics, 2020, 107, 4, p 763
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected
De Ridder W, Azmi A, Clemen CS, et al.
Neurology, 2019
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency
Hedberg-Oldfors C, De Ridder W, Kalev O, et al.
Neuromuscular disorders : NMD, 2019, 29, 12, p 951
Defects in Axonal Transport in Inherited Neuropathies
Beijer D, Sisto A, Van Lent J, et al.
Journal of Neuromuscular Diseases, 2019
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
Hanna MG, Badrising UA, Benveniste O, et al.
The Lancet. Neurology, 2019, 18, 9, p 834
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
De Ridder W, Nelson I, Asselbergh B, et al.
Neurology. Genetics, 2019, 5, 2
Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation
Heytens K, De Ridder W, De Bleecker J, et al.
Anaesthesia and intensive care, 2019, 47, 2, p 128
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
Johnson K, De Ridder W, Töpf A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018
Limb girdle muscular dystrophy due to mutations in POMT2
Østergaard ST, Johnson K, Stojkovic T, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 5, p 506
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease
Juneja M, Azmi A, Baets J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 8, p 870
Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases
Adriaenssens E, Geuens T, Baets J, et al.
Brain : a journal of neurology, 2017, 140, 10, p 2541
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
Tsai PC, Soong BW, Mademan I, et al.
Brain : a journal of neurology, 2017, 140, 5, p 1252
Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A
Fledrich R, Mannil M, Leha A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2017, 88, 11, p 941
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1
Peeters K, Palaima P, Pelayo-Negro AL, et al.
Annals of neurology, 2016, 80, 6, p 823
Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
Vanlander AV, Muino Mosquera L, Panzer J, et al.
Mitochondrion, 2016, 27, p 32
Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.
Gess B, Baets J, De Jonghe P, et al.
Cochrane Database of Systematic Reviews, 2015, 12
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
Zimon M, Battaloglu E, Parman Y, et al.
Neurogenetics, 2015, 16, 1, p 33
Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
Cottenie E, Kochanski A, Jordanova A, et al.
American journal of human genetics, 2014, 95, 5, p 590
Recent advances in Charcot-Marie-Tooth disease
Baets J, De Jonghe P, Timmerman V
Current opinion in neurology, 2014, 27, 5, p 532
Hereditary motor-sensory, motor, and sensory neuropathies in childhood
Landrieu P, Baets J
Handbook of Clinical Neurology (Pediatric Neurology), 2013, 113, 3rd series, cha, p. 1413-1432, p. 146
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
Mademan I, Deconinck T, Dinopoulos A, et al.
Neurology, 2013, 81, 22, p 1953
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
Guergueltcheva V, Peeters K, Baets J, et al.
Neurology, 2011, 77, 24, p. 2105-2114
