Detalhe da pesquisa
1.
Amyotrophic lateral sclerosis causes small fiber pathology.
Eur J Neurol
; 23(2): 416-20, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26806218
2.
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
Eur J Neurol
; 23(6): 1134-6, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27141859
3.
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
BMC Pediatr
; 15: 182, 2015 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26567009
4.
New FIG4 gene mutations causing aggressive ALS.
Eur J Neurol
; 25(3): e41-e42, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464931
5.
Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen.
Biol Direct
; 18(1): 57, 2023 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705059
6.
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation.
Eur J Neurol
; 24(7): e41-e42, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28643959
7.
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 82(11): 1239-43, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21613650
8.
Predictive genetic tests in neurodegenerative disorders: a methodological approach integrating psychological counseling for at-risk individuals and referring clinicians.
Eur Neurol
; 64(1): 33-41, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20588047
9.
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
Hum Mutat
; 30(4): 688-94, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19224587
10.
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science
; 271(5254): 1423-7, 1996 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-8596916
11.
Granny trips down: is she carrying the big bad wolf?
Neurol Sci
; 34(11): 2077-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22592565
12.
Early white matter involvement in an infant carrying a novel mutation in ACOX1.
Eur J Paediatr Neurol
; 20(3): 431-4, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26965209
13.
Evidence for two distinct mitochondrial malic enzymes in human skeletal muscle: purification and properties of the NAD(P)+-dependent enzyme.
Biochim Biophys Acta
; 916(3): 446-54, 1987 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-3689803
14.
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.
Eur J Hum Genet
; 9(6): 431-6, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11436124
15.
Sensitivity of FRDA lymphoblasts to salts of transition metal ions.
Antioxid Redox Signal
; 2(3): 461-5, 2000.
Artigo
em Inglês
| MEDLINE | ID: mdl-11229359
16.
Psychiatric symptoms do not correlate with cognitive decline, motor symptoms, or CAG repeat length in Huntington's disease.
Arch Neurol
; 53(6): 493-7, 1996 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8660149
17.
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.
Neurology
; 49(4): 1153-5, 1997 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9339708
18.
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Neurology
; 40(3 Pt 1): 495-9, 1990 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-2314594
19.
Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient.
Neurology
; 57(8): 1502-4, 2001 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-11673601
20.
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.
Neurology
; 41(7): 1053-9, 1991 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-2067633