Detalhe da pesquisa
1.
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Nat Genet
; 23(3): 296-303, 1999 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-10610178
2.
Group adaptation, formal darwinism and contextual analysis.
J Evol Biol
; 25(6): 1127-39, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22487485
3.
Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.
Arch Neurol
; 56(8): 943-9, 1999 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10448799
4.
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.
Neurology
; 68(21): 1837-40, 2007 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-17515546
5.
Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.
Hum Genet
; 98(3): 371-5, 1996 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-8707310
6.
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification.
Hum Mol Genet
; 10(22): 2593-601, 2001 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11709546
7.
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
Am J Hum Genet
; 66(2): 702-7, 2000 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-10677329
8.
[Clinical and molecular genetic analysis of 4 Swiss families with the pure form of hereditary spastic spinal paralysis]. / Klinische und molekulargenetische Analyse bei vier schweizerischen Familien mit der reinen Form der hereditären spastischen Spinalparalyse.
Schweiz Med Wochenschr
; 128(26): 1043-50, 1998 Jun 27.
Artigo
em Alemão
| MEDLINE | ID: mdl-9700778
9.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
Neuropediatrics
; 32(3): 142-6, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11521210
10.
Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23.
Genomics
; 72(2): 180-92, 2001 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11401431
11.
High-resolution physical mapping of a 250-kb region of human chromosome 11q24 by genomic sequence sampling (GSS).
Genomics
; 26(3): 489-501, 1995 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-7607672
12.
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
J Med Genet
; 35(2): 89-93, 1998 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-9507385
13.
Molecular cytogenetics localizes two new breakpoints on 11q23.3 and 21q11.2 in myelodysplastic syndrome with t(11;21) translocation.
Genes Chromosomes Cancer
; 24(3): 199-206, 1999 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10451699
14.
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.
Genomics
; 60(3): 309-19, 1999 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-10493830
15.
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.
Genome Res
; 8(11): 1216-27, 1998 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-9847083
16.
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Brain
; 119 ( Pt 5): 1487-96, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8931574
17.
Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients.
Am J Med Genet A
; 136(1): 90-2, 2005 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15952208