Detalhe da pesquisa
1.
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Hum Genet
; 138(11-12): 1313-1322, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673819
2.
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
Hum Mutat
; 20(6): 473, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12442272
3.
Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.
Ann Neurol
; 54(1): 130-4, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12838531
4.
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.
Am J Hum Genet
; 73(2): 390-6, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12840784