Detalhe da pesquisa
1.
Early life involvement in C9orf72 repeat expansion carriers.
J Neurol Neurosurg Psychiatry;
93(1): 93-100, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33906932
2.
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Hum Mol Genet;
27(23): 4036-4050, 2018 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30124830
3.
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.
Hum Mol Genet;
26(11): 2034-2041, 2017 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28335037
4.
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
J Peripher Nerv Syst;
22(4): 464-467, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28837237
5.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet;
40(9): 1113-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18711368
6.
Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.
Neurol India;
64(5): 980-3, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27625242
7.
Pathogenic variants in three families with distal muscle involvement.
Neuromuscul Disord;
33(1): 58-64, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36539320
8.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Brain;
134(Pt 1): 143-56, 2011 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20952379
9.
Relationship Between Sporadic Behavioral Variant Frontotemporal Dementia and Primary Psychiatric Disorders: A Study in Families.
J Clin Psychiatry;
83(6)2022 Nov 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36321927
10.
The phenotype of the Gly94fsX222 PMP22 insertion.
J Peripher Nerv Syst;
16(2): 113-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21692910
11.
Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.
Transl Psychiatry;
11(1): 451, 2021 09 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34475377
12.
Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
Neuromuscul Disord;
18(1): 59-62, 2008 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17825553
13.
Scaling of gene expression data allowing the comparison of different gene expression platforms.
Methods Mol Biol;
387: 169-83, 2008.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18287631
14.
Statistical comparison of two or more SAGE libraries: one tag at a time.
Methods Mol Biol;
387: 151-68, 2008.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18287630
15.
Serial analysis of gene expression (SAGE).
Methods Mol Biol;
383: 41-66, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18217678
16.
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
J Peripher Nerv Syst;
17(2): 223-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22734911
17.
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
JIMD Rep;
33: 87-92, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27683254
18.
Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia.
Acta Neuropathol Commun;
10(1): 141, 2022 09 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36131298
19.
Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE libraries.
FASEB J;
19(3): 404-6, 2005 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15629888
20.
Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B.
Neuromuscul Disord;
26(12): 837-840, 2016 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27614573