Search details
1.
Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.
Am J Physiol Cell Physiol
; 324(3): C769-C776, 2023 03 01.
Article
in English
| MEDLINE | ID: mdl-36745529
2.
COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy).
Neurol Sci
; 44(2): 437-446, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36289117
3.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Ann Neurol
; 88(1): 18-32, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32219868
4.
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Neurol Sci
; 42(12): 5359-5363, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34378097
5.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Neurogenetics
; 21(2): 87-96, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31900734
6.
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
Am J Med Genet A
; 179(5): 827-831, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30773800
7.
Value of structured reporting in neuromuscular disorders.
Radiol Med
; 124(7): 628-635, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30852791
8.
Correction to: COVID19associated GuillainBarré syndrome in the early pandemic experience in Lombardia (Italy).
Neurol Sci
; 44(4): 1475-1476, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36427103
9.
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
Am J Hum Genet
; 92(2): 293-300, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23352259
10.
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.
Muscle Nerve
; 50(2): 292-5, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24711008
11.
New missense variants of NDUFA11 associated with late-onset myopathy.
Muscle Nerve
; 60(2): E11-E14, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31074871
12.
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
Neurol Sci
; 40(9): 1963-1966, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-30911858
13.
Mitochondrial disease heterogeneity: a prognostic challenge.
Acta Myol
; 33(2): 86-93, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25709378
14.
Rhabdomyolysis-Associated Acute Kidney Injury.
Am J Kidney Dis
; 71(6): A12-A14, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29801551
15.
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Genes (Basel)
; 14(7)2023 07 02.
Article
in English
| MEDLINE | ID: mdl-37510298
16.
Sex differences in ischemic stroke during COVID-19 first outbreak in northern Italy.
J Neurol Sci
; 454: 120848, 2023 11 15.
Article
in English
| MEDLINE | ID: mdl-37939626
17.
Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.
Neurol Sci
; 32(4): 719-22, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21556866
18.
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Front Neurol
; 12: 657317, 2021.
Article
in English
| MEDLINE | ID: mdl-34177762
19.
Impact of SARS-CoV-2 infection on acute intracerebral haemorrhage in northern Italy.
J Neurol Sci
; 426: 117479, 2021 Jul 15.
Article
in English
| MEDLINE | ID: mdl-34004463
20.
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
Mol Genet Genomic Med
; 8(9): e1320, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32578970