Detalhe da pesquisa
1.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
N Engl J Med
; 388(2): 128-141, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516086
2.
Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.
Cerebellum
; 23(2): 489-501, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37101017
3.
Evolution of Sleep Complaints in Myotonic Dystrophy Type 1: A 9-Year Longitudinal Study.
Can J Neurol Sci
; 51(1): 137-139, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927489
4.
Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.
Cerebellum
; 2023 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38133849
5.
Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy.
Muscle Nerve
; 68(6): 841-849, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37849345
6.
Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1.
Muscle Nerve
; 65(6): 683-687, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212003
7.
Responsiveness of Daytime Sleepiness and Fatigue Scales in Myotonic Dystrophy Type 1.
Can J Neurol Sci
; 49(2): 287-290, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875033
8.
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
J Med Genet
; 58(10): 653-665, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910931
9.
Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
Hum Mol Genet
; 28(13): 2245-2254, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31220271
10.
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
Ann Neurol
; 87(4): 568-583, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970803
11.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
12.
Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia.
Can J Diet Pract Res
; 82(2): 95-97, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876991
13.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Am J Hum Genet
; 100(3): 488-505, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257691
14.
A study of impairments in oculopharyngeal muscular dystrophy.
Muscle Nerve
; 62(2): 201-207, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32270505
15.
Validity of the Mini-BESTest in adults with myotonic dystrophy type 1.
Muscle Nerve
; 62(1): 95-102, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32314404
16.
Progressive Decline in Daily and Social Activities: A 9-year Longitudinal Study of Participation in Myotonic Dystrophy Type 1.
Arch Phys Med Rehabil
; 100(9): 1629-1639, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30831092
17.
Lightweight, compact, and high-performance 3T MR system for imaging the brain and extremities.
Magn Reson Med
; 80(5): 2232-2245, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29536587
18.
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Arch Phys Med Rehabil
; 99(9): 1747-1754, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462597
19.
Lower limb muscle strength impairment in late-onset and adult myotonic dystrophy type 1 phenotypes.
Muscle Nerve
; 56(1): 57-63, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784130
20.
Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review.
Dev Med Child Neurol
; 59(3): 291-296, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671786