Detalhe da pesquisa
1.
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
Am J Med Genet C Semin Med Genet
; 190(4): 510-519, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36490374
2.
Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study.
Eur J Paediatr Neurol
; 51: 58-61, 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38824722
3.
Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study.
Neuromuscul Disord
; 36: 33-37, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38340696
4.
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
5.
Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers.
Eur J Paediatr Neurol
; 43: 36-43, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36893678
6.
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients.
Neuromuscul Disord
; 32(9): 736-742, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35953344
7.
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Eur J Hum Genet
; 30(8): 984-988, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581417
8.
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
J Clin Med
; 11(14)2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887841
9.
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.
Orphanet J Rare Dis
; 16(1): 424, 2021 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34635134
10.
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.
J Clin Med
; 10(7)2021 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33917340
11.
Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.
Brain Sci
; 11(2)2021 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33668418
12.
Defining language disorders in children and adolescents with Noonan Syndrome.
Mol Genet Genomic Med
; 8(4): e1069, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32059087
13.
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
Brain Sci
; 10(11)2020 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187326
14.
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype.
Clin Dysmorphol
; 31(2): 74-78, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238837