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1.
Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.
Eur J Neurol
; 31(1): e16065, 2024 01.
Article
in English
| MEDLINE | ID: mdl-37725003
2.
Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.
J Musculoskelet Neuronal Interact
; 20(4): 610-613, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33265090
3.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Article
in English
| MEDLINE | ID: mdl-26942287
4.
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.
J Neurogenet
; 32(4): 316-321, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29989513
5.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Brain
; 140(4): 940-952, 2017 Apr 01.
Article
in English
| MEDLINE | ID: mdl-28334956
6.
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
Am J Med Genet A
; 164A(8): 1923-30, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24733578
7.
Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.
Genes (Basel)
; 15(1)2024 Jan 21.
Article
in English
| MEDLINE | ID: mdl-38275615
8.
The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?
Neurol Sci
; 34(7): 1223-6, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23354605
9.
The Y831C Mutation of the POLG Gene in Dementia.
Biomedicines
; 11(4)2023 Apr 13.
Article
in English
| MEDLINE | ID: mdl-37189790
10.
The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.
Life (Basel)
; 13(2)2023 Feb 16.
Article
in English
| MEDLINE | ID: mdl-36836911
11.
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Biomedicines
; 10(9)2022 Sep 14.
Article
in English
| MEDLINE | ID: mdl-36140376
12.
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Neurol Sci
; 37(5): 805-7, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26700800
13.
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Front Genet
; 11: 131, 2020.
Article
in English
| MEDLINE | ID: mdl-32194622
14.
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.
Eur J Hum Genet
; 27(4): 594-602, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30659260
15.
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.
Neuromuscul Disord
; 17(3): 258-61, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17241783
16.
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
Arch Neurol
; 62(10): 1582-6, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16216942
17.
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Neuromuscul Disord
; 25(4): 333-9, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25660390
18.
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
Neuromuscul Disord
; 14(11): 750-3, 2004 Nov.
Article
in English
| MEDLINE | ID: mdl-15482961
19.
Early-onset subcortical ischemic vascular dementia in an adult with mtDNA mutation 3316G>A.
J Neurol
; 265(4): 968-969, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29464373
20.
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex.
Mitochondrion
; 10(5): 548-54, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20433951