Detalhe da pesquisa
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301203
2.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
3.
Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.
Telemed J E Health
; 30(4): 1013-1019, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943530
4.
Evaluation of Dorsal Midline Discolorations with Physical Examination and Ultrasound.
J Pediatr
; 190: 246-250, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29144251
5.
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Brain
; 138(Pt 9): 2521-36, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179919
6.
Corrigendum: Remote assessment of cognition in Parkinson's disease and cerebellar ataxia: the MoCA test in English and Hebrew.
Front Hum Neurosci
; 18: 1401098, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38638808
7.
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.
J Neurol
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38625400
8.
Remote assessment of cognition in Parkinson's disease and Cerebellar Ataxia: the MoCA test in English and Hebrew.
Front Hum Neurosci
; 17: 1325215, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38259338
9.
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
J Mol Neurosci
; 72(8): 1715-1723, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35676594
10.
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.
Eur J Hum Genet
; 29(11): 1654-1662, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837277
11.
International survey on the management of skin stigmata and suspected tethered cord.
Childs Nerv Syst
; 26(12): 1719-25, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20563728
12.
Low-risk lumbar skin stigmata in infants: the role of ultrasound screening.
J Pediatr
; 155(6): 864-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19643444
13.
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Neurology
; 84(7): 659-67, 2015 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25609768