Detalhe da pesquisa
1.
A "Post-mortem" of COVID-19-associated stroke: a case-control study.
J Stroke Cerebrovasc Dis
; 31(11): 106716, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36087377
2.
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Neuropathol Appl Neurobiol
; 47(5): 664-678, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33393119
3.
Diagnostic Accuracy of a Bedside Screening Tool for Dysphagia (BSTD) in Acute Stroke Patients.
J Stroke Cerebrovasc Dis
; 30(2): 105470, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33227603
4.
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807278
5.
Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.
Am J Med Genet A
; 182(1): 176-182, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609081
6.
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
J Cell Physiol
; 233(8): 5829-5837, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215735
7.
Aquaporin 4 expression in human skeletal muscle fiber types.
Muscle Nerve
; 57(5): 856-858, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193153
8.
Neurofibromatous neuropathy: An ultrastructural study.
Ultrastruct Pathol
; 42(3): 312-316, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29583067
9.
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Brain
; 139(Pt 1): 73-85, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26556829
10.
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.
Neuroepidemiology
; 46(3): 191-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26882032
11.
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.
Muscle Nerve
; 53(4): 644-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26600210
12.
Diagnostic Accuracy of Dysphagia Screening in Stroke Care: Answer to the Letter by Toscano et al.
J Stroke Cerebrovasc Dis
; 30(4): 105666, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581987
13.
The Baffling Case of Ischemic Stroke Disappearance from the Casualty Department in the COVID-19 Era.
Eur Neurol
; 83(2): 213-215, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32289789
14.
COVID-19-Related Stroke: Barking up the Wrong Tree?
Eur Neurol
; 83(2): 218-219, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32526743
15.
Impaired healing of fragility fractures in type 2 diabetes: clinical and radiographic assessments and serum cytokine levels.
Aging Clin Exp Res
; 27 Suppl 1: S37-44, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26197718
16.
Successful long-term therapy with flecainide in a family with paramyotonia congenita.
J Neurol Neurosurg Psychiatry
; 89(11): 1232-1234, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29487168
17.
Multiple Sclerosis Treatment in the COVID-19 Era: A Risk-Benefit Approach.
Neurol Int
; 14(2): 368-377, 2022 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35466211
18.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Genes (Basel)
; 13(7)2022 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885913
19.
Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers.
Am J Pathol
; 177(3): 1377-87, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20616343
20.
Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease.
J Neuromuscul Dis
; 8(6): 979-988, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120910