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Auteur Baets J |
Documents disponibles écrits par cet auteur



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The expanding genetic landscape of hereditary motor neuropathies
Beijer D, Baets J
Brain : a journal of neurology, 2020
Revue : Brain : a journal of neurology Titre : The expanding genetic landscape of hereditary motor neuropathies Type de document : Article Auteurs : Beijer D ; Baets J Editeur : England Année de publication : 19/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33210134 / DOI : 10.1093/brain/awaa311
N° Profil MNM : 2020112 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33210134 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures Type de document : Article Auteurs : Vanherpe P, Auteur ; Fieuws S ; D'Hondt A ; Bleyenheuft C ; Demaerel P ; De Bleecker J ; van den Bergh P ; Baets J ; Remiche G ; Verhoeven K ; Delstanche S ; Toussaint M ; Buyse B ; Van Damme P ; Depuydt CE ; Claeys KG Année de publication : 04/2020 Pages : p 83 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32248831 / DOI : 10.1186/s13023-020-01353-4
N° Profil MNM : 2020041 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32248831 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : American journal of human genetics, 107, 4 Titre : De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation Type de document : Article Auteurs : Mendoza-Ferreira N ; Karakaya M ; Cengiz N ; Beijer D ; Brigatti KW ; Gonzaga-Jauregui C ; Fuhrmann N ; Holker I ; Thelen MP ; Zetzsche S ; Rombo R ; Puffenberger EG ; De Jonghe P ; Deconinck T ; Züchner S ; Strauss KA ; Carson V ; Schrank B ; Wunderlich G ; Baets J ; Wirth B Année de publication : 2020 Pages : p 763 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32937143 / DOI : 10.1016/j.ajhg.2020.08.018
N° Profil MNM : 2020092 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32937143 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neurology Titre : Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected Type de document : Article Auteurs : De Ridder W ; Azmi A ; Clemen CS ; Eichinger L ; Hofmann A ; Schröder R ; Johnson K ; Töpf A ; Straub V ; De Jonghe P ; Maudsley S ; De Bleecker JL ; Baets J Editeur : United States Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : adulte ; consanguinité ; corrélation génotype-phénotype ; étude de cas ; maladie neuromusculaire ; masculin ; VCP (maladie neuromusculaire liée à) Pubmed / DOI : Pubmed : 31848255 / DOI : 10.1212/WNL.0000000000008763
N° Profil MNM : 2019122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31848255 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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Defects in Axonal Transport in Inherited Neuropathies
Beijer D, Sisto A, Van Lent J, et al.
Journal of Neuromuscular Diseases, 2019
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Recent advances in Charcot-Marie-Tooth disease
Baets J, De Jonghe P, Timmerman V
Current opinion in neurology, 2014, 27, 5, p 532
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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
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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
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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
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