Search details
1.
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
Hum Mol Genet
; 20(10): 1886-92, 2011 May 15.
Article
in English
| MEDLINE | ID: mdl-21330303
2.
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Brain
; 135(Pt 9): 2642-60, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22961544
3.
Late-onset generalized myasthenia gravis: clinical features, treatment, and outcome.
Acta Neurol Belg
; 120(1): 133-140, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31811563
4.
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Neuromuscul Disord
; 28(4): 315-322, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29395675
5.
A database for screening and registering late onset Pompe disease in Turkey.
Neuromuscul Disord
; 28(3): 262-267, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29395671
6.
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Neuromuscul Disord
; 27(11): 997-1008, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28967462
7.
Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.
Neurology
; 87(8): 799-805, 2016 Aug 23.
Article
in English
| MEDLINE | ID: mdl-27440146
8.
Effects of prior treatment with simvastatin on skeletal muscle structure and mitochondrial enzyme activities during early phases of sepsis.
Int J Clin Exp Pathol
; 7(12): 8356-65, 2014.
Article
in English
| MEDLINE | ID: mdl-25674200
9.
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
Neuromuscul Disord
; 24(7): 624-33, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24856141
10.
Corrigendum to "Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up" [Neuromuscular Disorders 28/4 (2018) 315-322].
Neuromuscul Disord
; 28(10): 896, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-30290857
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