Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Behavioral profile in RASopathies.
Am J Med Genet A
; 164A(4): 934-42, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458522
6.
Inflammatory bowel diseases and psychological issues: A new approach for a systematic analysis of the academic debate.
Psychol Health Med
; 19(5): 559-71, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24215557
7.
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Arch Dis Child
; 109(5): 395-401, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290776
8.
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.
Neuromuscul Disord
; 34: 75-82, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157655
9.
Hb Treviso [α91(FG3)LeuâPhe (α2)]: a new slightly unstable hemoglobin variant with moderately decreased oxygen affinity.
Hemoglobin
; 37(2): 107-11, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23350769
10.
Psychological factors in functional hypothalamic amenorrhea: A systematic review and meta-analysis.
Front Endocrinol (Lausanne)
; 14: 981491, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36777338
11.
Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0.
Neuromuscul Disord
; 33(9): 69-73, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612177
12.
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
EClinicalMedicine
; 59: 101997, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197706
13.
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
J Neuromuscul Dis
; 10(4): 567-574, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066919
14.
Breaking bad news in assisted reproductive technology: a proposal for guidelines.
Reprod Health
; 14(1): 87, 2017 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728610
15.
Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial.
Nucleic Acid Ther
; 32(1): 29-39, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788571
16.
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients.
Arch Dis Child
; 2022 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577540
17.
Sudden unexpected death in epilepsy (SUDEP): a pilot study on truth telling among Italian epileptologists.
Neurol Sci
; 32(2): 331-5, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20607335
18.
How Italian students learn to become physicians: a qualitative study of the hidden curriculum.
Med Teach
; 33(12): 989-96, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22225437
19.
Cross-cultural adaptation of an innovative approach to learning about difficult conversations in healthcare.
Med Teach
; 33(2): e57-64, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21275534
20.
Laughs and Jokes in Assisted Reproductive Technologies: Quantitative and Qualitative Analysis of Video-Recorded Doctor-Couple Visits.
Front Psychol
; 12: 648333, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33935909