Detalhe da pesquisa
1.
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
Cerebellum
; 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165578
2.
Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.
Pediatr Cardiol
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427090
3.
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
Cerebellum
; 22(5): 790-809, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962273
4.
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Muscle Nerve
; 65(5): 560-567, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179228
5.
Pain as a significant symptom in patients with periodic paralysis-A cross-sectional survey.
Muscle Nerve
; 63(6): 897-901, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33759219
6.
Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich's Ataxia.
Sensors (Basel)
; 21(4)2021 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33562027
7.
Temporal but not spatial dysmetria relates to disease severity in FA.
J Neurophysiol
; 123(2): 718-725, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31693434
8.
Sleep disorders in myotonic dystrophies.
Muscle Nerve
; 62(3): 309-320, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32212331
9.
Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study.
Ann Clin Transl Neurol
; 11(5): 1290-1300, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38556905
10.
Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy.
Tremor Other Hyperkinet Mov (N Y)
; 14: 6, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38344215
11.
Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.
Mov Disord Clin Pract
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38594844
12.
Perspectives of the Friedreich ataxia community on gene therapy clinical trials.
Mol Ther Methods Clin Dev
; 32(1): 101179, 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38261944
13.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv
; 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293186
14.
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.
Mov Disord Clin Pract
; 11(5): 496-503, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419568
15.
Patient-Reported Impact of Symptoms in Friedreich Ataxia.
Neurology
; 100(8): e808-e821, 2023 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36443012
16.
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
J Neurol
; 270(3): 1615-1623, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462055
17.
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Neurology
; 100(17): e1836-e1848, 2023 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797067
18.
Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure.
Neurol Clin Pract
; 13(5): e200180, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646046
19.
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Lancet Neurol
; 22(3): 218-228, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36804094
20.
Inherited Ataxias in Children.
Pediatr Neurol
; 131: 54-62, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35490578