Detalhe da pesquisa
1.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Clin Genet
; 2024 Apr 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38685133
2.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 95(3): 201-205, 2024 Feb 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38041684
3.
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Mov Disord
; 36(7): 1676-1688, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33624863
4.
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Hum Mutat
; 41(8): e7-e45, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32579787
5.
Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.
Neurol Sci
; 41(8): 2157-2164, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32140910
6.
A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy.
Ideggyogy Sz
; 71(9-10): 337-342, 2018 Sep 30.
Artigo
Inglês
| MEDLINE | ID: mdl-30335266
7.
Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis.
Clin Immunol
; 166-167: 81-8, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27181991
8.
Inspiratory Muscle Training in Late-Onset Pompe Disease: The Effects on Pulmonary Function Tests, Quality of Life, and Sleep Quality.
Lung
; 194(4): 555-61, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27106274
9.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23913485
10.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-21330303
11.
Coexistence of Guillain-Barré syndrome and Behçet's disease.
Clin Exp Rheumatol
; 31(3 Suppl 77): 88-9, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23433066
12.
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Brain
; 135(Pt 9): 2642-60, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22961544
13.
Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis.
Noro Psikiyatr Ars
; 59(1): 77-79, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35317495
14.
Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study.
Neuromuscul Disord
; 32(9): 718-727, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35922275
15.
The clinical use of impulse oscillometry in neuromuscular diseases.
Respir Med
; 200: 106931, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35858508
16.
Increased complement consumption in MuSK-antibody-positive myasthenia gravis patients.
Med Princ Pract
; 20(6): 581-3, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21986021
17.
Giant cell myositis and myocarditis revisited.
Acta Myol
; 39(4): 302-306, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33458585
18.
Functional Outcomes and Complications Following Scapulothoracic Arthrodesis in Patients with Facioscapulohumeral Dystrophy.
J Bone Joint Surg Am
; 102(3): 237-244, 2020 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31658207
19.
A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy.
Orthop Traumatol Surg Res
; 106(4): 701-707, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32430271
20.
Late-onset generalized myasthenia gravis: clinical features, treatment, and outcome.
Acta Neurol Belg
; 120(1): 133-140, 2020 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-31811563