Search details
1.
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
2.
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.
Int J Mol Sci
; 23(15)2022 Aug 08.
Article
in English
| MEDLINE | ID: mdl-35955927
3.
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Am J Physiol Gastrointest Liver Physiol
; 320(5): G768-G779, 2021 05 01.
Article
in English
| MEDLINE | ID: mdl-33655764
4.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
J Inherit Metab Dis
; 44(2): 376-387, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32898308
5.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Int J Mol Sci
; 22(16)2021 Aug 06.
Article
in English
| MEDLINE | ID: mdl-34445196
6.
HTRA1 expression profile and activity on TGF-ß signaling in HTRA1 mutation carriers.
J Cell Physiol
; 235(10): 7120-7127, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32017060
7.
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
8.
Eye movement changes in autosomal dominant spinocerebellar ataxias.
Neurol Sci
; 41(7): 1719-1734, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32130555
9.
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.
Neurol Sci
; 41(4): 943-949, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31863326
10.
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
11.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Hum Mutat
; 39(9): 1273-1283, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29935101
12.
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
13.
Imaging of the thymus in myotonic dystrophy type 1.
Neurol Sci
; 39(2): 347-351, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29177794
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.
Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Neurol Sci
; 38(7): 1333-1336, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28378255
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.
Circulating Biomarkers in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients.
J Stroke Cerebrovasc Dis
; 26(4): 823-833, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-27876311
18.
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
J Inherit Metab Dis
; 39(1): 75-83, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26153518
19.
Operationalizing mild cognitive impairment criteria in small vessel disease: the VMCI-Tuscany Study.
Alzheimers Dement
; 12(4): 407-18, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26079418
20.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Article
in English
| MEDLINE | ID: mdl-23906836