Detalhe da pesquisa
1.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
2.
Hospital admissions from the emergency department of adult patients affected by myopathies.
Eur J Neurol
; 31(5): e16214, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38226549
3.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
4.
Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective.
Int J Mol Sci
; 25(9)2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732076
5.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185710
6.
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Eur J Neurol
; 30(2): 399-412, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36303290
7.
Treatment of benzodiazepine-refractory status epilepticus: A retrospective, cohort study.
Epilepsy Behav
; 140: 109093, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739634
8.
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.
Eur J Neurol
; 29(6): 1571-1586, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318776
9.
Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review.
Neurol Sci
; 43(12): 6955-6959, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097203
10.
Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience.
Neurol Sci
; 43(4): 2845-2848, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094171
11.
Impact of COVID-19 vaccine on epilepsy in adult subjects: an Italian multicentric experience.
Neurol Sci
; 43(8): 4627-4634, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501537
12.
Vitamin D in Neurological Diseases.
Int J Mol Sci
; 24(1)2022 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613531
13.
Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.
Molecules
; 27(11)2022 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35684429
14.
Sleep Disorders in Mitochondrial Diseases.
Curr Neurol Neurosci Rep
; 21(7): 30, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33948737
15.
Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck.
Neurol Sci
; 42(4): 1549-1553, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244741
16.
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
Int J Mol Sci
; 22(9)2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34067185
17.
CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.
J Headache Pain
; 22(1): 85, 2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320921
18.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Neurogenetics
; 21(2): 87-96, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31900734
19.
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
BMC Cardiovasc Disord
; 20(1): 156, 2020 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248794
20.
Awareness of rare and genetic neurological diseases among italian neurologist. A national survey.
Neurol Sci
; 41(6): 1567-1570, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31989346