Detalhe da pesquisa
1.
Categorization of the amyotrophic lateral sclerosis population via the clinical determinant of post-onset ΔFS for study design and medical practice.
Muscle Nerve
; 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712849
2.
Effect of familial clustering in the genetic screening of 235 French ALS families.
J Neurol Neurosurg Psychiatry
; 92(5): 479-484, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408239
3.
Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.
Eur J Neurol
; 28(8): 2780-2783, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34110677
4.
The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.
Hum Mol Genet
; 24(2): 471-9, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205110
5.
Bent spine syndrome as the initial symptom of late-onset Pompe disease.
Muscle Nerve
; 56(1): 167-170, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862019
6.
Reply to the letter from Gazulla et al.
Eur J Neurol
; 29(1): e3-e4, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34624147
7.
Facioscapulohumeral muscular dystrophy.
Biochim Biophys Acta
; 1852(4): 607-14, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24882751
8.
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Hum Mol Genet
; 23(1): 171-81, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23966205
9.
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
Am J Hum Genet
; 93(4): 744-51, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24075187
10.
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.
Ann Neurol
; 78(3): 387-400, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018399
11.
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Hum Mol Genet
; 22(20): 4206-14, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777630
12.
Deciphering spreading mechanisms in amyotrophic lateral sclerosis: clinical evidence and potential molecular processes.
Curr Opin Neurol
; 28(5): 455-61, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26356410
13.
Could the motor unit number index be an early prognostic biomarker for amyotrophic lateral sclerosis?
Clin Neurophysiol
; 163: 47-55, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38703699
14.
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
J Med Genet
; 49(1): 41-6, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21984748
15.
The impact of active coping strategies on survival in ALS: the first pilot study.
Amyotroph Lateral Scler
; 13(6): 599-601, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22881411
16.
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.
PLoS Genet
; 5(2): e1000394, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19247430
17.
Clinical trials in pediatric ALS: a TRICALS feasibility study.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(7-8): 481-488, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172656
18.
Challenges in diagnosis and treatment of late-onset Pompe disease.
Curr Opin Neurol
; 24(5): 443-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21892081
19.
Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle.
Stem Cells
; 28(12): 2182-94, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20936706
20.
Isolation of a highly myogenic CD34-negative subset of human skeletal muscle cells free of adipogenic potential.
Stem Cells
; 28(4): 753-64, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20135684