Spremljaj
Haluk Topaloglu
Haluk Topaloglu
Neznano partnerstvo
Preverjeni e-poštni naslov na hacettepe.edu.tr
Naslov
Navedeno
Navedeno
Leto
Nusinersen versus sham control in infantile-onset spinal muscular atrophy
RS Finkel, E Mercuri, BT Darras, AM Connolly, NL Kuntz, J Kirschner, ...
New England Journal of Medicine 377 (18), 1723-1732, 2017
20382017
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ...
Neuromuscular disorders 28 (2), 103-115, 2018
9132018
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
A Yoshida, K Kobayashi, H Manya, K Taniguchi, H Kano, M Mizuno, ...
Developmental cell 1 (5), 717-724, 2001
8572001
Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy
A Helbling-Leclerc, X Zhang, H Topaloglu, C Cruaud, F Tesson, ...
Nature genetics 11 (2), 216-218, 1995
7481995
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
D De Vivo, E Bertini, K Swoboda, WL Hwu, T Crawford, R Finkel, ...
Neuromuscular Disorders 29 (11), 2019
5302019
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task …
PYK Van den Bergh, PA van Doorn, RDM Hadden, B Avau, ...
Journal of the Peripheral Nervous System 26 (3), 242-268, 2021
4692021
Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
C Godfrey, E Clement, R Mein, M Brockington, J Smith, B Talim, V Straub, ...
Brain 130 (10), 2725-2735, 2007
4572007
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ...
The Lancet 390 (10101), 1489-1498, 2017
4512017
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
P Bomont, L Cavalier, F Blondeau, CB Hamida, S Belal, M Tazir, E Demir, ...
Nature genetics 26 (3), 370-374, 2000
4302000
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
B Moghadaszadeh, N Petit, C Jaillard, M Brockington, SQ Roy, L Merlini, ...
Nature genetics 29 (1), 17-18, 2001
3942001
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
RW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ...
Jama 312 (1), 68-77, 2014
3812014
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study
T Voit, H Topaloglu, V Straub, F Muntoni, N Deconinck, G Campion, ...
The Lancet Neurology 13 (10), 987-996, 2014
3742014
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
K Gempel, H Topaloglu, B Talim, P Schneiderat, BGH Schoser, VH Hans, ...
Brain 130 (8), 2037-2044, 2007
3692007
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
S Nicole, CS Davoine, H Topaloglu, L Cattolico, D Barral, P Beighton, ...
Nature genetics 26 (4), 480-483, 2000
3422000
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
LT Jae, M Raaben, M Riemersma, E Van Beusekom, VA Blomen, A Velds, ...
Science 340 (6131), 479-483, 2013
3042013
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
J Senderek, M Krieger, C Stendel, C Bergmann, M Moser, ...
Nature genetics 37 (12), 1312-1314, 2005
2922005
A dystroglycan mutation associated with limb-girdle muscular dystrophy
Y Hara, B Balci-Hayta, T Yoshida-Moriguchi, M Kanagawa, ...
New England Journal of Medicine 364 (10), 939-946, 2011
2892011
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
2482009
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
J Senderek, C Bergmann, C Stendel, J Kirfel, N Verpoorten, P De Jonghe, ...
The American Journal of Human Genetics 73 (5), 1106-1119, 2003
2442003
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
D Hillaire, A Leclerc, S Fauré, H Topaloglu, N Chiannllkulchai, ...
Human molecular genetics 3 (9), 1657-1661, 1994
2391994
Sistem trenutno ne more izvesti postopka. Poskusite znova pozneje.
Članki 1–20