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1 . Academic Journal
Diffusion tensor imaging in pediatric patients with dystonia
저자
by
Loução, Ricardo
;
Burkhardt, Julia
;
Wirths, Jochen
;
Kabbasch, Christoph
;
Dembek, Till A.
, et al.
소스
In
NeuroImage
15 February 2024 287
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7 . Academic Journal
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature
저자
by
Fazeli, Walid
;
Bamborschke, Daniel
;
Moawia, Abubakar
;
Bakhtiari, Somayeh
;
Tafakhori, Abbas
, et al.
소스
In
European Journal of Paediatric Neurology
January 2022 36:7-13
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7 . Academic Journal
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
저자
by
Koy, Anne
;
Cirak, Sebahattin
;
Gonzalez, Victoria
;
Becker, Kerstin
;
Roujeau, Thomas
, et al.
소스
In
Journal of the Neurological Sciences
15 August 2018 391:31-39
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7 . Academic Journal
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
저자
by
Wang, Haicui
;
Castiglioni, Claudia
;
Kaçar Bayram, Ayşe
;
Fattori, Fabiana
;
Pekuz, Serdar
, et al.
소스
In
Neuromuscular Disorders
September 2017 27(9):836-842
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7 . Academic Journal
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
저자
by
Chamova, Teodora
;
Guergueltcheva, Velina
;
Gospodinova, Mariana
;
Krause, Sabine
;
Cirak, Sebahattin
, et al.
소스
In
Neuromuscular Disorders
September 2015 25(9):713-718
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7 . Academic Journal
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
저자
by
Thiel, Moritz
;
Bamborschke, Daniel
;
Janzarik, Wibke G.
;
Assmann, Birgit
;
Zittel, Simone
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry; Oct2023, Vol. 94 Issue 10, p806-815, 10p
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7 . Academic Journal
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype
저자
by
Quinlivan, Ros
;
Mitsuahashi, Satomi
;
Sewry, Caroline
;
Cirak, Sebahattin
;
Aoyama, Chieko
, et al.
소스
In
Neuromuscular Disorders
July 2013 23(7):549-556
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7 . Academic Journal
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype
저자
by
Yis, Uluc
;
Uyanik, Gökhan
;
Heck, Pinar Bambul
;
Smitka, Martin
;
Nobel, Hannes
, et al.
소스
In
Neuromuscular Disorders
2011 21(1):20-30
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7 . Academic Journal
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
저자
by
Cirak, Sebahattin
;
Arechavala-Gomeza, Virginia
;
Guglieri, Michela
;
Feng, Lucy
;
Torelli, Silvia
, et al.
소스
In
The Lancet
2011 378(9791):595-605
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7 . Academic Journal
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
저자
by
Kinali, Maria
;
Arechavala-Gomeza, Virginia
;
Feng, Lucy
;
Cirak, Sebahattin
;
Hunt, David
, et al.
소스
In
Lancet Neurology
2009 8(10):918-928
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