Detalhe da pesquisa
1.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
2.
Costs of epilepsy and cost-driving factors in children, adolescents, and their caregivers in Germany.
Epilepsia
; 56(9): 1388-97, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235849
3.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Hum Mutat
; 34(8): 1111-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606453
4.
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Orphanet J Rare Dis
; 18(1): 101, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131188
5.
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Brain
; 133(Pt 6): 1810-22, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20430833
6.
Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany.
Seizure
; 69: 92-98, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004927
7.
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
Ann Neurol
; 62(4): 422-6, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17696123
8.
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
Neuromuscul Disord
; 28(8): 671-674, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30017359
9.
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Orphanet J Rare Dis
; 11(1): 104, 2016 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27473762
10.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Nat Commun
; 6: 7623, 2015 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26151409
11.
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Neurology
; 80(5): 438-46, 2013 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-23284067
12.
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Neuromuscul Disord
; 22 Suppl 2: S122-9, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22980763
13.
Clinical and neuropathological findings in patients with TACO1 mutations.
Neuromuscul Disord
; 20(11): 720-4, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20727754
14.
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
Nat Genet
; 41(7): 833-7, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19503089
15.
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
Am J Hum Genet
; 81(1): 158-64, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17564972
16.
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Am J Med Genet A
; 117A(1): 10-7, 2003 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12548734