Detalhe da pesquisa
1.
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
N Engl J Med
; 385(5): 427-435, 2021 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320287
2.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695206
3.
Early treatment of type II SMA slows rate of progression of scoliosis.
J Neurol Neurosurg Psychiatry
; 95(3): 235-240, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37739783
4.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Eur J Neurol
; : e16309, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38656662
5.
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies.
Lab Invest
; 103(3): 100037, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925196
6.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Eur J Neurol
; 30(6): 1755-1763, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880698
7.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515763
8.
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.
Neuropediatrics
; 54(3): 211-216, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36693417
9.
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
Neuropediatrics
; 54(6): 426-429, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257496
10.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Neuropathol Appl Neurobiol
; 48(7): e12842, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904184
11.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Muscle Nerve
; 65(1): 96-104, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687219
12.
Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
Eur J Pediatr
; 181(5): 1923-1932, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35048179
13.
Spinal muscular atrophy: state of the art and new therapeutic strategies.
Neurol Sci
; 43(Suppl 2): 615-624, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33871750
14.
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
Neurol Sci
; 43(3): 2081-2084, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031921
15.
Comprehensive Phenotyping of Peripheral Blood T Lymphocytes in Healthy Mice.
Cytometry A
; 99(3): 243-250, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098601
16.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol
; 88(6): 1109-1117, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926458
17.
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Muscle Nerve
; 64(5): 552-559, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327716
18.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
19.
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies.
Clin Neuropathol
; 40(6): 310-318, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281632
20.
Anterior cingulate and medial prefrontal cortex response to systematically controlled tonal dissonance during passive music listening.
Hum Brain Mapp
; 41(1): 46-66, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512332