Detalhe da pesquisa
1.
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
J Med Genet
; 60(3): 233-240, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35710109
2.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35471564
3.
A case report of unilateral cervical lymphadenopathy and multiple cranial neuropathies following mRNA-COVID-19 vaccination.
BMC Neurol
; 22(1): 369, 2022 Sep 26.
Artigo
Inglês
| MEDLINE | ID: mdl-36163025
4.
Multi-system neurological disorder associated with a CRYAB variant.
Neurogenetics
; 22(2): 117-125, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33811585
5.
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
Clin Genet
; 99(5): 713-718, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33491183
6.
Neurological misdiagnoses of lymphoma.
Neurol Sci
; 42(5): 1933-1940, 2021 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32974798
7.
Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
Acta Neuropathol
; 140(5): 765-776, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32895736
8.
VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report.
Endocr Pract
; 26(10): 1131-1142, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33471715
9.
MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.
Curr Neurol Neurosci Rep
; 19(10): 70, 2019 08 23.
Artigo
Inglês
| MEDLINE | ID: mdl-31440850
10.
Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics.
Acta Neuropathol
; 146(6): 853-856, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37776353
11.
Neurologic complications of immune checkpoint inhibitors.
J Neurooncol
; 137(3): 601-609, 2018 May.
Artigo
Inglês
| MEDLINE | ID: mdl-29332184
12.
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.
Biochem J
; 474(20): 3403-3420, 2017 09 28.
Artigo
Inglês
| MEDLINE | ID: mdl-28827282
13.
Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy.
J Lipid Res
; 58(8): 1598-1612, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28630259
14.
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Hum Mol Genet
; 24(20): 5667-76, 2015 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26199317
15.
Pembrolizumab: first experience with recurrent primary central nervous system (CNS) tumors.
J Neurooncol
; 129(3): 453-460, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27377654
16.
Clinical utility and treatment outcome of comprehensive genomic profiling in high grade glioma patients.
J Neurooncol
; 130(1): 211-219, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27531351
17.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis
; 39(1): 115-24, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26025547
18.
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Pediatr Blood Cancer
; 63(3): 418-27, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26544533
19.
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Brain
; 138(Pt 9): 2521-36, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26179919
20.
Prolonged Hiccups Following a Single Oral Dose of Prednisone.
Isr Med Assoc J
; 23(12): 824, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34954926