Search details
1.
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Mov Disord
; 2024 Jun 07.
Article
in English
| MEDLINE | ID: mdl-38847051
2.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Article
in English
| MEDLINE | ID: mdl-37586838
3.
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.
Eur Radiol
; 32(12): 8058-8064, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-35593959
4.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33970200
5.
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Neurol Sci
; 43(2): 1071-1077, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-34296356
6.
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
Eur J Neurol
; 28(8): 2784-2788, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33851480
7.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Int J Mol Sci
; 22(16)2021 Aug 06.
Article
in English
| MEDLINE | ID: mdl-34445196
8.
Docosahexaenoic acid in ARSACS: observations in two patients.
BMC Neurol
; 20(1): 215, 2020 May 28.
Article
in English
| MEDLINE | ID: mdl-32466761
9.
Clinical and molecular studies in two new cases of ARSACS.
Neurogenetics
; 20(1): 45-49, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30680480
10.
De novo unbalanced translocations have a complex history/aetiology.
Hum Genet
; 137(10): 817-829, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-30276538
11.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Article
in English
| MEDLINE | ID: mdl-34480796
12.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
J Neurol
; 270(10): 5057-5063, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37418012
13.
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
Neuropediatrics
; 43(5): 283-8, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22932948
14.
Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective.
J Pers Med
; 12(2)2022 Feb 19.
Article
in English
| MEDLINE | ID: mdl-35207801
15.
Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report.
Front Neurol
; 13: 942667, 2022.
Article
in English
| MEDLINE | ID: mdl-36071899
16.
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
J Neurol
; 269(3): 1476-1484, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-34292398
17.
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Neurol Genet
; 8(2): e664, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35372684
18.
De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability.
Genes (Basel)
; 12(4)2021 03 31.
Article
in English
| MEDLINE | ID: mdl-33807234
19.
Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report.
Children (Basel)
; 8(6)2021 Jun 18.
Article
in English
| MEDLINE | ID: mdl-34207052
20.
Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.
J Pers Med
; 10(4)2020 Oct 09.
Article
in English
| MEDLINE | ID: mdl-33050239