Detalles de la búsqueda
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artículo
Inglés
| MEDLINE | ID: mdl-37301203
2.
Periventricular heterotopia in a male child with USP9X missense variant.
Am J Med Genet A
; 191(5): 1350-1354, 2023 05.
Artículo
Inglés
| MEDLINE | ID: mdl-36680497
3.
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Hum Mutat
; 43(12): 2222-2233, 2022 12.
Artículo
Inglés
| MEDLINE | ID: mdl-36259739
4.
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Am J Med Genet A
; 188(6): 1667-1675, 2022 06.
Artículo
Inglés
| MEDLINE | ID: mdl-35146895
5.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artículo
Inglés
| MEDLINE | ID: mdl-35682590
6.
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Mol Genet Metab
; 134(4): 353-358, 2021 12.
Artículo
Inglés
| MEDLINE | ID: mdl-34865968
7.
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia.
Neuropediatrics
; 52(6): 484-488, 2021 12.
Artículo
Inglés
| MEDLINE | ID: mdl-33853164
8.
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Epilepsy Behav
; 124: 108315, 2021 Oct 04.
Artículo
Inglés
| MEDLINE | ID: mdl-34619538
9.
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.
Neurol Sci
; 42(7): 2637-2644, 2021 Jul.
Artículo
Inglés
| MEDLINE | ID: mdl-33929645
10.
Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.
Cerebellum
; 19(5): 629-635, 2020 Oct.
Artículo
Inglés
| MEDLINE | ID: mdl-32472476
11.
Neurological phenotype of Potocki-Lupski syndrome.
Am J Med Genet A
; 182(10): 2317-2324, 2020 10.
Artículo
Inglés
| MEDLINE | ID: mdl-33043631
12.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artículo
Inglés
| MEDLINE | ID: mdl-33043602
13.
A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects.
Neuropediatrics
; 51(3): 173-177, 2020 06.
Artículo
Inglés
| MEDLINE | ID: mdl-31784971
14.
Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells.
Int J Mol Sci
; 21(16)2020 Aug 11.
Artículo
Inglés
| MEDLINE | ID: mdl-32796702
15.
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Am J Hum Genet
; 98(2): 363-72, 2016 Feb 04.
Artículo
Inglés
| MEDLINE | ID: mdl-26833329
16.
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).
Cerebellum
; 18(5): 972-975, 2019 Oct.
Artículo
Inglés
| MEDLINE | ID: mdl-31410782
17.
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Am J Med Genet A
; 179(11): 2277-2283, 2019 11.
Artículo
Inglés
| MEDLINE | ID: mdl-31436889
18.
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Am J Med Genet A
; 179(4): 588-594, 2019 04.
Artículo
Inglés
| MEDLINE | ID: mdl-30793471
19.
Pott's Disease: An Emerging Source of Potentially Inappropriate Treatment.
Neuropediatrics
; 50(5): 334-335, 2019 10.
Artículo
Inglés
| MEDLINE | ID: mdl-31141827
20.
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.
Neurol Sci
; 40(3): 561-570, 2019 Mar.
Artículo
Inglés
| MEDLINE | ID: mdl-30604336