Detalhe da pesquisa
1.
Resistance strength training exercise in children with spinal muscular atrophy.
Muscle Nerve
; 52(4): 559-67, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597614
2.
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
Ann Neurol
; 71(4): 509-19, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522442
3.
TANGO: a placebo-controlled randomized phase 2 study of efficacy and safety of the anti-tau monoclonal antibody gosuranemab in early Alzheimer's disease.
Nat Aging
; 3(12): 1591-1601, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012285
4.
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
J Inherit Metab Dis
; 35(6): 1119-28, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22481384
5.
The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy.
Hum Mol Genet
; 18(7): 1181-9, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19129172
6.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976770
7.
Riluzole pharmacokinetics in young patients with spinal muscular atrophy.
Br J Clin Pharmacol
; 71(3): 403-10, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21284699
8.
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
Am J Med Genet A
; 152A(3): 622-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186794
9.
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Eur J Med Genet
; 63(12): 104063, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32947049
10.
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
Eur J Hum Genet
; 15(10): 1054-62, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17609673
11.
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
Neurol Genet
; 3(2): e139, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28293679
12.
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Brain Dev
; 28(4): 232-42, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16368217
13.
Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children.
J Neuromuscul Dis
; 2(4): 453-462, 2015 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858747
14.
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
PLoS One
; 10(5): e0127045, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25996915
15.
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Eur J Hum Genet
; 12(6): 483-8, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15054395
16.
Evoked potentials in spinal muscular atrophy.
J Child Neurol
; 18(6): 383-90, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12886971
17.
Spinal muscular atrophies.
Handb Clin Neurol
; 113: 1395-411, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23622363
18.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Nat Genet
; 44(9): 1030-4, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22842232
19.
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
PLoS One
; 10(8): e0137370, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26322789
20.
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Am J Hum Genet
; 81(1): 67-76, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17564964