Search details
1.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Article
in English
| MEDLINE | ID: mdl-38193360
2.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36943151
3.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Article
in English
| MEDLINE | ID: mdl-34382076
4.
[Short telomere syndrome in adults: a rare entity that should be evoked]. / Syndrome des télomères courts chez l'adulteâ : une entité rare qu'il faut savoir évoquer.
Rev Med Suisse
; 18(793): 1606-1613, 2022 Aug 31.
Article
in French
| MEDLINE | ID: mdl-36047552
5.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34163037
6.
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Am J Med Genet A
; 191(6): 1658-1663, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36905089
7.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34522029
8.
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Am J Med Genet A
; 185(8): 2602-2606, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34018673
9.
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.
Med
; 4(5): 311-325.e7, 2023 05 12.
Article
in English
| MEDLINE | ID: mdl-37001522
10.
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
J Clin Lipidol
; 16(5): 583-590, 2022.
Article
in English
| MEDLINE | ID: mdl-35780059
11.
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
Genes (Basel)
; 12(5)2021 05 06.
Article
in English
| MEDLINE | ID: mdl-34066437
12.
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Nat Commun
; 12(1): 5533, 2021 09 20.
Article
in English
| MEDLINE | ID: mdl-34545091
13.
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Eur J Hum Genet
; 29(9): 1384-1395, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33594261
14.
Birt-Hogg-Dubé syndrome.
Eur Respir Rev
; 29(157)2020 Sep 30.
Article
in English
| MEDLINE | ID: mdl-32943413
15.
A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
Ann Thorac Surg
; 109(4): e279-e281, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31473177
16.
Maturation of Cerebellar Purkinje Cell Population Activity during Postnatal Refinement of Climbing Fiber Network.
Cell Rep
; 21(8): 2066-2073, 2017 Nov 21.
Article
in English
| MEDLINE | ID: mdl-29166599
17.
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
HeartRhythm Case Rep
; 6(1): 15-19, 2020 Jan.
Article
in English
| MEDLINE | ID: mdl-31956495
18.
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.
J Neurol Sci
; 315(1-2): 15-9, 2012 Apr 15.
Article
in English
| MEDLINE | ID: mdl-22257501
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