Search details
1.
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.
Neurol Sci
; 44(4): 1415-1418, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36648562
2.
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Neurol Sci
; 43(4): 2849-2852, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35066644
3.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Article
in English
| MEDLINE | ID: mdl-36498898
4.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32337771
5.
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Muscle Nerve
; 64(5): 567-575, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34368974
6.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Int J Mol Sci
; 22(16)2021 Aug 06.
Article
in English
| MEDLINE | ID: mdl-34445196
7.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32778822
8.
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Brain
; 142(9): 2605-2616, 2019 09 01.
Article
in English
| MEDLINE | ID: mdl-31332438
9.
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
Neurol Sci
; 41(12): 3653-3662, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32504279
10.
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.
Biochem Biophys Res Commun
; 500(2): 158-162, 2018 06 02.
Article
in English
| MEDLINE | ID: mdl-29625105
11.
A case report of FAVA syndrome in a young woman carrying a mutation in the PIK3CA gene.
Neurol Sci
; 44(11): 4147-4150, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37438545
12.
Imaging of the thymus in myotonic dystrophy type 1.
Neurol Sci
; 39(2): 347-351, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29177794
13.
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Hum Mutat
; 38(12): 1761-1773, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28895244
14.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
BMC Med
; 15(1): 41, 2017 02 24.
Article
in English
| MEDLINE | ID: mdl-28231783
15.
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Brain
; 139(Pt 6): 1723-34, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27016404
16.
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Neurol Sci
; 38(4): 563-570, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28130605
17.
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
Neurol Sci
; 36(9): 1713-5, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26050231
18.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Am J Hum Genet
; 88(6): 729-740, 2011 Jun 10.
Article
in English
| MEDLINE | ID: mdl-21620354
19.
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report.
Neurol Sci
; 40(6): 1303-1306, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-30635801
20.
Homozygosity and severity of phenotypic presentation in a CADASIL family.
Neurol Sci
; 35(1): 91-3, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24277202