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1.
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
2.
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
3.
The Y831C Mutation of the POLG Gene in Dementia.
Biomedicines
; 11(4)2023 Apr 13.
Article
in English
| MEDLINE | ID: mdl-37189790
4.
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
5.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med
; 359(16): 1685-99, 2008 Oct 16.
Article
in English
| MEDLINE | ID: mdl-18784092
6.
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
7.
A novel L1CAM mutation in a fetus detected by prenatal diagnosis.
Eur J Pediatr
; 169(4): 415-9, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-19685344
8.
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
Arch Neurol
; 63(2): 284-7, 2006 Feb.
Article
in English
| MEDLINE | ID: mdl-16476820
9.
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
10.
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
11.
Denaturing HPLC-based assay for detection of ATRX gene mutations.
Clin Chem
; 51(7): 1314-5, 2005 Jul.
Article
in English
| MEDLINE | ID: mdl-15976132
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