Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
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.
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
8.
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
9.
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
10.
Assessing floppy infants: a new module.
Eur J Pediatr
; 181(7): 2771-2778, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35504981
11.
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
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.
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
Int J Mol Sci
; 23(18)2022 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142184
14.
Muscle-MRI and Functional Levels for the Evaluation of Upper Limbs in Duchenne Muscular Dystrophy: A Critical Review of the Literature.
Medicina (Kaunas)
; 58(3)2022 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35334617
15.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol
; 88(6): 1109-1117, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926458
16.
Ultrasound assisted lumbar intrathecal administration of nusinersen in adult patients with spinal muscular atrophy: A case series.
Muscle Nerve
; 64(5): 594-599, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34396547
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.
Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy.
Medicina (Kaunas)
; 57(11)2021 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34833484
19.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778822
20.
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen.
J Pediatr
; 219: 223-228.e4, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32035635