Detalhe da pesquisa
1.
A National Spinal Muscular Atrophy Registry for Real-World Evidence.
Can J Neurol Sci
; 47(6): 810-815, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493524
2.
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Am J Med Genet A
; 179(2): 206-218, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556349
3.
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Muscle Nerve
; 57(2): 193-199, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28833236
4.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
J Med Genet
; 54(7): 490-501, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28264986
5.
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
BMC Med Genet
; 16: 28, 2015 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25925991
6.
SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.
Muscle Nerve
; 49(2): 187-92, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23681940
7.
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
J Med Genet
; 50(12): 819-22, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24065355
8.
Solving the puzzle of spinal muscular atrophy: what are the missing pieces?
Am J Med Genet A
; 161A(11): 2836-45, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24124019
9.
Generation of Conditional Knockout Alleles for PRUNE-1.
Cells
; 12(4)2023 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831191
10.
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
Hum Mol Genet
; 19(3): 454-67, 2010 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19897588
11.
Constraining the Side Chain of C-Terminal Amino Acids in Apelin-13 Greatly Increases Affinity, Modulates Signaling, and Improves the Pharmacokinetic Profile.
J Med Chem
; 64(9): 5345-5364, 2021 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524256
12.
Association of the dopamine transporter gene and ADHD symptoms in a Canadian population-based sample of same-age twins.
Am J Med Genet B Neuropsychiatr Genet
; 147B(8): 1442-9, 2008 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18165969
13.
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.
J Child Neurol
; 22(11): 1301-4, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18006961
14.
Perspectives on clinical trials in spinal muscular atrophy.
J Child Neurol
; 22(8): 957-66, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17761650
15.
Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells.
Biochem J
; 385(Pt 2): 433-43, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15361068
16.
Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.
Exp Neurol
; 279: 13-26, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26892876
17.
Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy.
J Child Neurol
; 20(2): 147-50, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15794183
18.
Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults.
J Neuromuscul Dis
; 2(2): 119-130, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858735
19.
Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.
Clin Biochem
; 45(1-2): 88-91, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22085534
20.
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.
PLoS One
; 6(7): e21296, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21754985