Detalhe da pesquisa
1.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
2.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150594
3.
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
J Med Genet
; 55(12): 814-823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30415211
4.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Am J Hum Genet
; 95(2): 143-61, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065914
5.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(6): 1251, 2019 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173719
6.
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.
Mov Disord
; 32(2): 264-273, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862279
7.
An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).
BMC Med Inform Decis Mak
; 17(1): 159, 2017 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29207981
8.
Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation.
Hum Mutat
; 37(10): 1106-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27363592
9.
Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.
J Biol Chem
; 289(6): 3186-97, 2014 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24356962
10.
No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.
Am J Med Genet B Neuropsychiatr Genet
; 168B(1): 54-65, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25349034
11.
A note on rotigotine for restless legs syndrome after renal transplantation.
Mov Disord
; 34(1): 151-152, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653728
12.
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Neurogenetics
; 14(1): 11-22, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23334463
13.
Severe neurometabolic phenotype in npc1 -/- zebrafish with a C-terminal mutation.
Front Mol Neurosci
; 16: 1078634, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37008782
14.
Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?
Hum Mutat
; 38(1): 5, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27943540
15.
Databases for neurogenetics: introduction, overview, and challenges.
Hum Mutat
; 33(9): 1311-4, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22890789
16.
Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.
Hum Mutat
; 33(9): 1315-23, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753388
17.
Human Variome Project country nodes: documenting genetic information within a country.
Hum Mutat
; 33(11): 1513-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753370
18.
Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.
Muscle Nerve
; 46(6): 961-4, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23225389
19.
A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.
Cephalalgia
; 32(14): 1076-80, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22908361
20.
SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population.
Am J Med Genet B Neuropsychiatr Genet
; 159B(1): 94-103, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22162417