Detalhe da pesquisa
1.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Cell
; 159(1): 200-214, 2014 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25259927
2.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
3.
Thymic gene expression analysis reveals a potential link between HIF-1A and Th17/Treg imbalance in thymoma associated myasthenia gravis.
J Neuroinflammation
; 21(1): 126, 2024 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734662
4.
Disease activity in chronic inflammatory demyelinating polyneuropathy: association between circulating B-cell subsets, cytokine levels, and clinical outcomes.
Clin Exp Immunol
; 215(1): 65-78, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638717
5.
Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study.
J Peripher Nerv Syst
; 29(1): 72-81, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38291679
6.
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653949
7.
Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.
J Peripher Nerv Syst
; 28(3): 351-358, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37448294
8.
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
JAMA
; 330(15): 1448-1458, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37768671
9.
Disease activity in chronic inflammatory demyelinating polyneuropathy: A comparative study of clinical and skin biopsy markers.
Muscle Nerve
; 66(6): 736-743, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36151750
10.
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
Acta Neurol Scand
; 145(5): 619-626, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130357
11.
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis.
N Engl J Med
; 379(1): 11-21, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29972753
12.
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Mov Disord
; 36(7): 1676-1688, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624863
13.
Diaphragmatic dysfunction at the first visit to a chest diseases outpatient clinic in 500 patients with amyotrophic lateral sclerosis.
Muscle Nerve
; 63(5): 683-689, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576026
14.
An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis.
Acta Neurol Scand
; 144(6): 640-646, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34322872
15.
Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).
Neurol Sci
; 42(9): 3871-3878, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528672
16.
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
em Inglês
| MEDLINE | ID: mdl-32579787
17.
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
Neurogenetics
; 21(1): 73-78, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673878
18.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
19.
Cognition of the mothers of patients with Duchenne muscular dystrophy.
Muscle Nerve
; 62(6): 710-716, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893363
20.
Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.
Neurol Neurochir Pol
; 54(2): 176-184, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242913