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1 . Academic Journal
Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy
저자
by
BULUT, Numan
;
KARADUMAN, Ayşe
;
ALEMDAROĞLU-GÜRBÜZ, İpek
;
YILMAZ, Öznur
;
TOPALOĞLU, Haluk
, et al.
소스
Arquivos de Neuro-Psiquiatria
. May 2022 80(5)
Open Access (SciELO)
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7 . Academic Journal
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
저자
by
Volpe, Joseph J
;
Posner, John
;
Kellner, Ulrich
;
Quinlivan, Rosaline
;
Gerber, Marianne
, et al.
소스
In
The Lancet Neurology
December 2022 21(12):1110-1119
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7 . Academic Journal
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
저자
by
Volpe, Joseph J.
;
Posner, John
;
Kellner, Ulrich
;
Quinlivan, Rosaline
;
Daron, Aurore
, et al.
소스
In
The Lancet Neurology
January 2022 21(1):42-52
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7 . Academic Journal
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
저자
by
Adoukonou, Thierry
;
Aryani, Omid
;
Barisic, Nina
;
Bashiri, Fahad
;
Bastaki, Laila
, et al.
소스
In
Neuromuscular Disorders
June 2021 31(6):574-582
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7 . Academic Journal
The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies
저자
by
Aksu-Menges, Evrim
;
Akkaya-Ulum, Yeliz Z.
;
Dayangac-Erden, Didem
;
Balci-Peynircioglu, Banu
;
Yuzbasioglu, Ayse
, et al.
소스
In
The American Journal of Pathology
October 2020 190(10):2136-2145
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7 . Academic Journal
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel
저자
by
Arslan, Elif Acar
;
Öncel, İbrahim
;
Ceylan, Ahmet Cevdet
;
Topçu, Meral
;
Topaloğlu, Haluk
.
소스
In
Brain and Development
January 2020 42(1):6-18
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7 . Academic Journal
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study
저자
by
Akinci, Gulcin
;
Topaloglu, Haluk
;
Demir, Tevfik
;
Danyeli, Ayca Ersen
;
Talim, Beril
, et al.
소스
In
Neuromuscular Disorders
October 2017 27(10):923-930
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7 . Academic Journal
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
저자
by
Alfano, Lindsay N
;
Eagle, Michelle
;
James, Meredith K
;
Lowes, Linda
;
Mayhew, Anna
, et al.
소스
In
The Lancet
23-29 September 2017 390(10101):1489-1498
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7 . Academic Journal
Challenges in pediatric chronic inflammatory demyelinating polyneuropathy
저자
by
Haliloğlu, Göknur
;
Yüksel, Deniz
;
Temuçin, Cağri Mesut
;
Topaloğlu, Haluk
.
소스
In
Neuromuscular Disorders
December 2016 26(12):817-824
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6 . Academic Journal
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4
저자
by
Akinci, Gulcin
;
Topaloglu, Haluk
;
Akinci, Baris
;
Onay, Huseyin
;
Karadeniz, Cem
, et al.
소스
In
European Journal of Medical Genetics
June 2016 59(6-7):320-324
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