Detalhe da pesquisa
1.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
2.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
3.
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.
BMC Neurol
; 18(1): 3, 2018 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29316893
4.
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Mol Cell Probes
; 30(1): 53-5, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26714052
5.
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.
Mol Cell Probes
; 30(1): 44-9, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26790960
6.
Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease.
Kidney Int
; 88(1): 160-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25671765
7.
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
Mol Cell Probes
; 28(4): 118-22, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24225367
8.
Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.
Mol Cell Probes
; 28(5-6): 279-83, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25171808
9.
Ccdc66 null mutation causes retinal degeneration and dysfunction.
Hum Mol Genet
; 20(18): 3620-31, 2011 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21680557
10.
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.
Mol Cell Probes
; 27(1): 32-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23010210
11.
Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene.
Neurogenetics
; 11(2): 163-74, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19777273
12.
Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene.
Mol Cell Probes
; 24(6): 357-63, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20691256
13.
Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.
Neuromuscul Disord
; 19(2): 167-71, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19167890
14.
Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.
Muscle Nerve
; 49(1): 144-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929688
15.
APOE alleles in Parkinson disease and their relationship to cognitive decline: a population-based, longitudinal study.
J Geriatr Psychiatry Neurol
; 22(3): 166-70, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19321880
16.
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Neuromuscul Disord
; 18(12): 934-41, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18996010
17.
Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.
Mol Syndromol
; 9(2): 100-109, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29593477
18.
Haplotype-defined linkage region for gPRA in Schapendoes dogs.
Mol Vis
; 13: 174-80, 2007 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-17327822
19.
FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study.
J Geriatr Psychiatry Neurol
; 20(2): 89-92, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17548778
20.
Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression.
J Neurol Sci
; 381: 265-268, 2017 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28991695