Detalhe da pesquisa
1.
Risdiplam in Type 1 Spinal Muscular Atrophy.
N Engl J Med
; 384(10): 915-923, 2021 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33626251
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.
Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls.
Muscle Nerve
; 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482981
5.
Hospital admissions from the emergency department of adult patients affected by myopathies.
Eur J Neurol
; 31(5): e16214, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38226549
6.
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
7.
Neurological assessment tool for screening infants during the first year after birth: The Brief-Hammersmith Infant Neurological Examination.
Dev Med Child Neurol
; 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287208
8.
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Eur J Pediatr
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634892
9.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
J Med Genet
; 60(7): 697-705, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414255
10.
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment.
Eur J Neurol
; 30(7): 1945-1956, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35837793
11.
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
12.
New therapies for spinal muscular atrophy: where we stand and what is next.
Eur J Pediatr
; 182(7): 2935-2942, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37067602
13.
Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen.
Paediatr Anaesth
; 33(4): 282-290, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636888
14.
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.
Dysphagia
; 38(6): 1568-1580, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37289231
15.
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.
Int J Lang Commun Disord
; 2023 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982346
16.
Hammersmith Infant Neurological Examination in infants born at term: Predicting outcomes other than cerebral palsy.
Dev Med Child Neurol
; 64(7): 871-880, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35201619
17.
Hammersmith Infant Neurological Examination in low-risk infants born very preterm: a longitudinal prospective study.
Dev Med Child Neurol
; 64(7): 863-870, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298030
18.
Assessing floppy infants: a new module.
Eur J Pediatr
; 181(7): 2771-2778, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35504981
19.
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Eur J Pediatr
; 181(7): 2821-2829, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35522315
20.
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