Search details
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38118446
2.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Article
in English
| MEDLINE | ID: mdl-37301203
3.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
N Engl J Med
; 388(2): 128-141, 2023 01 12.
Article
in English
| MEDLINE | ID: mdl-36516086
4.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Mov Disord
; 39(3): 486-497, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38197134
5.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
; 146(5): 2003-2015, 2023 05 02.
Article
in English
| MEDLINE | ID: mdl-36315648
6.
Menopausal Hormone Therapy, an Ever-Present Topic: A Pilot Survey about Women's Experience and Medical Doctors' Approach.
Medicina (Kaunas)
; 60(5)2024 May 07.
Article
in English
| MEDLINE | ID: mdl-38792957
7.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37183190
8.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36331550
9.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37454282
10.
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.
Article
in English
| MEDLINE | ID: mdl-35471564
11.
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.
Mov Disord
; 38(2): 347-353, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36420574
12.
Reactogenicity, safety and disease flares following BNT162b2 mRNA COVID-19 vaccine in patients with chronic immune-inflammatory arthritis treated with biological and targeted synthetic disease-modifying anti-rheumatic drugs.
Clin Exp Rheumatol
; 41(3): 667-675, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36135948
13.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med
; 24(10): 2194-2203, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36001086
14.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35986737
15.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 25(10): 100961, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37650884
16.
NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
Ann Neurol
; 89(3): 633-635, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33377220
17.
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
Front Mol Neurosci
; 17: 1222935, 2024.
Article
in English
| MEDLINE | ID: mdl-38495551
18.
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Eur J Hum Genet
; 32(2): 200-208, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37853102
19.
Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS).
F1000Res
; 12: 1113, 2023.
Article
in English
| MEDLINE | ID: mdl-38464738
20.
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Mov Disord Clin Pract
; 10(1): 101-108, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36698997