متابعة
Jonathan Baets
Jonathan Baets
Neurogenetics group, University of Antwerp
بريد إلكتروني تم التحقق منه على uantwerpen.be
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial
JF Howard, V Bril, T Vu, C Karam, S Peric, T Margania, H Murai, ...
The Lancet Neurology 20 (7), 526-536, 2021
4362021
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
E Leipold, L Liebmann, GC Korenke, T Heinrich, S Gießelmann, J Baets, ...
Nature genetics 45 (11), 1399-1404, 2013
3502013
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
I Kurth, T Pamminger, JC Hennings, D Soehendra, AK Huebner, ...
Nature genetics 41 (11), 1179-1181, 2009
2712009
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
C Beetz, R Schüle, T Deconinck, KN Tran-Viet, H Zhu, BPH Kremer, ...
Brain 131 (4), 1078-1086, 2008
2172008
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2
JB Rivière, S Ramalingam, V Lavastre, M Shekarabi, S Holbert, ...
The American Journal of Human Genetics 89 (2), 219-230, 2011
2142011
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I
A Rotthier, M Auer-Grumbach, K Janssens, J Baets, A Penno, ...
The American Journal of Human Genetics 87 (4), 513-522, 2010
2112010
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation
A Rotthier, J Baets, ED Vriendt, A Jacobs, M Auer-Grumbach, N Levy, ...
Brain 132 (10), 2699-2711, 2009
2112009
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
ML Kennerson, GA Nicholson, SG Kaler, B Kowalski, JFB Mercer, J Tang, ...
The American Journal of Human Genetics 86 (3), 343-352, 2010
2082010
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
I Gijselinck, S Van Mossevelde, J Van Der Zee, A Sieben, S Philtjens, ...
Neurology 85 (24), 2116-2125, 2015
2032015
Mechanisms of disease in hereditary sensory and autonomic neuropathies
A Rotthier, J Baets, V Timmerman, K Janssens
Nature Reviews Neurology 8 (2), 73-85, 2012
2032012
Transcriptional regulator PRDM12 is essential for human pain perception
YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ...
Nature genetics 47 (7), 803-808, 2015
1952015
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype–phenotype correlation study
I Dierick, J Baets, J Irobi, A Jacobs, E De Vriendt, T Deconinck, L Merlini, ...
Brain 131 (5), 1217-1227, 2008
1602008
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
C Guelly, PP Zhu, L Leonardis, L Papić, J Zidar, M Schabhüttl, ...
The American Journal of Human Genetics 88 (1), 99-105, 2011
1592011
Mutations in SACS cause atypical and late-onset forms of ARSACS
J Baets, T Deconinck, K Smets, D Goossens, P Van den Bergh, K Dahan, ...
Neurology 75 (13), 1181-1188, 2010
1592010
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
M Zimoń, J Baets, L Almeida-Souza, E De Vriendt, J Nikodinovic, ...
Nature genetics 44 (10), 1080-1083, 2012
1572012
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
M Zimoń, J Baets, M Auer-Grumbach, J Berciano, A Garcia, E Lopez-Laso, ...
Brain 133 (6), 1798-1809, 2010
1552010
Genetic spectrum of hereditary neuropathies with onset in the first year of life
J Baets, T Deconinck, E De Vriendt, M Zimoń, L Yperzeele, ...
Brain 134 (9), 2664-2676, 2011
1482011
The SCN1A variant database: a novel research and diagnostic tool
LRF Claes, L Deprez, A Suls, J Baets, K Smets, T Van Dyck, T Deconinck, ...
Human mutation 30 (10), E904-E920, 2009
1452009
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2
E Cottenie, A Kochanski, A Jordanova, B Bansagi, M Zimon, A Horga, ...
The American Journal of Human Genetics 95 (5), 590-601, 2014
1402014
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
MG Hanna, UA Badrising, O Benveniste, TE Lloyd, M Needham, H Chinoy, ...
The Lancet Neurology 18 (9), 834-844, 2019
1362019
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مقالات 1–20