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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.
A Transcriptome Analysis of mRNAs and Long Non-Coding RNAs in Patients with Parkinson's Disease.
Int J Mol Sci
; 23(3)2022 Jan 28.
Article
in English
| MEDLINE | ID: mdl-35163455
3.
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
4.
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
5.
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
6.
The Y831C Mutation of the POLG Gene in Dementia.
Biomedicines
; 11(4)2023 Apr 13.
Article
in English
| MEDLINE | ID: mdl-37189790
7.
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
8.
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson's disease.
Arch Med Sci
; 19(3): 678-686, 2023.
Article
in English
| MEDLINE | ID: mdl-37313207
9.
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.
Acta Myol
; 41(1): 37-40, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-35465342
10.
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
11.
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Front Genet
; 11: 131, 2020.
Article
in English
| MEDLINE | ID: mdl-32194622
12.
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
13.
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
14.
Expression of SpanX mRNA in testicular germ cell tumors.
Hum Cell
; 19(3): 87-90, 2006 Aug.
Article
in English
| MEDLINE | ID: mdl-17204091
15.
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
16.
Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.
Hum Mutat
; 21(5): 529-34, 2003 May.
Article
in English
| MEDLINE | ID: mdl-12673795
17.
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
18.
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
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