Detalhe da pesquisa
1.
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Ann Hum Genet
; 87(3): 104-114, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575883
2.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
J Med Genet
; 59(11): 1069-1074, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393337
3.
Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience.
Epilepsy Behav
; 110: 107147, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32604021
4.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
5.
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.
Neuropediatrics
; 50(1): 41-45, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30453357
6.
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum Mutat
; 39(9): 1284-1298, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29858556
7.
Reversible Hypertensive Myelopathy-The Spinal Cord Variant of Posterior Reversible Encephalopathy Syndrome.
Neuropediatrics
; 48(2): 115-118, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28033622
8.
Cerebral Hyperperfusion in a Child with Stroke-Like Migraine Attacks after Radiation Therapy Syndrome.
Neuropediatrics
; 47(4): 259-62, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27104483
9.
Epidemiology of type 1 diabetes mellitus in children and adolescents: A 50-year, single-center experience.
J Diabetes
; 16(5): e13562, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38664892
10.
Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Eur J Paediatr Neurol
; 49: 66-72, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38394710
11.
Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency.
Neuropediatrics
; 48(6): 477-481, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28800659
12.
Clinical and laboratory features of children with tremor: a single-center experience.
Acta Neurol Belg
; 122(2): 479-484, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618342
13.
Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay.
Eur J Paediatr Neurol
; 33: 94-98, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34119739
14.
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.
Ann Clin Transl Neurol
; 7(11): 2288-2296, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037864
15.
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.
Neuromuscul Disord
; 29(6): 448-455, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130378
16.
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.
Hum Genome Var
; 6: 24, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123592
17.
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.
Neuromuscul Disord
; 27(3): 239-242, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28109637
18.
Clinical characteristics of type 1 diabetes over a 40 year period in Turkey: secular trend towards earlier age of onset.
J Pediatr Endocrinol Metab
; 27(7-8): 635-41, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706426