Detalhe da pesquisa
1.
Towards a Global View of Parkinson's Disease Genetics.
Ann Neurol
; 95(5): 831-842, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38557965
2.
Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree.
J Med Genet
; 2022 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35879052
3.
Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy.
Eur J Neurol
; 29(12): 3556-3563, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35996994
4.
Insights into the regulatory molecules involved in glaucoma pathogenesis.
Am J Med Genet C Semin Med Genet
; 184(3): 782-827, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32935930
5.
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.
Am J Med Genet A
; 179(8): 1507-1515, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31111683
6.
Identification of direct target genes of miR-7, miR-9, miR-96, and miR-182 in the human breast cancer cell lines MCF-7 and MDA-MB-231.
Mol Cell Probes
; 34: 45-52, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546132
7.
Identification of a mutation in TNRC18 in a patient with clinical features of Fazio-Londe disease.
Clin Case Rep
; 12(1): e8394, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38188848
8.
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Mol Neurodegener
; 17(1): 3, 2022 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000612
9.
Water uptake by gecko ß-keratin and the influence of relative humidity on its mechanical and volumetric properties.
J R Soc Interface
; 19(194): 20220372, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36128704
10.
Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
J Neurol
; 268(2): 640-650, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897397
11.
A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.
Neuromuscul Disord
; 31(6): 528-531, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824075
12.
BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.
Neurobiol Aging
; 99: 102.e1-102.e10, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189404
13.
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.
Mol Genet Genomic Med
; 8(7): e1240, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383541
14.
Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.
Br J Ophthalmol
; 104(11): 1621-1628, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31420327
15.
Gaussian Charge Distributions for Incorporation of Electrostatic Interactions in Dissipative Particle Dynamics: Application to Self-Assembly of Surfactants.
J Chem Theory Comput
; 15(7): 4197-4207, 2019 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145600
16.
Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients.
Neurobiol Aging
; 75: 225.e9-225.e14, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30553531
17.
Correction: Challenge accepted: Uncovering the role of rare genetic variants in Alzheimer's disease.
Mol Neurodegener
; 17(1): 70, 2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36320069
18.
Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.
J Neurol Sci
; 369: 318-323, 2016 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27653917
19.
Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation.
Iran J Neurol
; 14(3): 152-7, 2015 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26622980
20.
HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.
Neurobiol Aging
; 36(3): 1606.e1-7, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25725944