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
Inglês
| MEDLINE | ID: mdl-37695206
2.
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Eur J Pediatr
; 2024 Apr 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38634892
3.
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
Inglês
| MEDLINE | ID: mdl-36414255
4.
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
Inglês
| MEDLINE | ID: mdl-36880698
5.
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
J Neurol Neurosurg Psychiatry
; 93(12): 1253-1261, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36220341
6.
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Eur J Pediatr
; 181(7): 2821-2829, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35522315
7.
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Ann Neurol
; 86(3): 443-451, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31228281
8.
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
BMC Cardiovasc Disord
; 20(1): 156, 2020 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32248794
9.
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
J Med Genet
; 56(5): 293-300, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30593463
10.
Sustainable method for Alzheimer dementia prediction in mild cognitive impairment: Electroencephalographic connectivity and graph theory combined with apolipoprotein E.
Ann Neurol
; 84(2): 302-314, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30014515
11.
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
J Neurol Neurosurg Psychiatry
; 93(8): 908-910, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35086940
12.
Recognizable facial features in patients with alternating hemiplegia of childhood.
Am J Med Genet A
; 170(10): 2698-705, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27312461
13.
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Am J Hum Genet
; 91(1): 5-14, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22703880
14.
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
Epilepsia
; 56(5): 692-8, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25847462
15.
Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?
Neuropediatrics
; 46(1): 33-6, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25539139
16.
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Neuromuscul Disord
; 34: 114-122, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38183850
17.
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Front Neurol
; 15: 1284459, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38356886
18.
Solving the puzzle of spinal muscular atrophy: what are the missing pieces?
Am J Med Genet A
; 161A(11): 2836-45, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24124019
19.
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.
J Med Genet
; 47(12): 856-8, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20837492
20.
Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.
Front Neurol
; 12: 658451, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33897609