Detalhe da pesquisa
1.
Unleashing the potential of mRNA therapeutics for inherited neurological diseases.
Brain
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662782
2.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695206
3.
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
BMC Neurol
; 23(1): 165, 2023 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095452
4.
Don't forget Allgrove syndrome in adult patients as a bulbar-ALS mimicker.
Neurol Sci
; 44(10): 3703-3705, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37458842
5.
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Int J Mol Sci
; 24(6)2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982625
6.
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Mov Disord
; 37(9): 1938-1943, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792653
7.
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
Int J Mol Sci
; 23(17)2022 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077211
8.
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
Hum Mol Genet
; 28(23): 3921-3927, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600784
9.
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Clin Genet
; 99(6): 829-835, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33604894
10.
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.
Metab Brain Dis
; 36(7): 1871-1878, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34357553
11.
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients.
J Cell Mol Med
; 24(5): 3034-3039, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032473
12.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Am J Hum Genet
; 101(4): 525-538, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942965
13.
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
BMC Neurol
; 20(1): 316, 2020 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32847536
14.
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
BMC Neurol
; 20(1): 408, 2020 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33160304
15.
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
Hum Mol Genet
; 25(19): 4266-4281, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506976
16.
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Am J Hum Genet
; 97(1): 186-93, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26094573
17.
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.
J Neurosci Res
; 96(9): 1576-1585, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113722
18.
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.
BMC Neurol
; 18(1): 220, 2018 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591017
19.
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Muscle Nerve
; 55(1): 55-68, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27184587
20.
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
Stroke
; 47(7): 1702-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27245348