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1 . Academic Journal
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model
저자
by
Marchese, Maria
;
Bernardi, Sara
;
Ogi, Asahi
;
Licitra, Rosario
;
Silvi, Giada
, et al.
소스
In
Neurobiology of Disease
July 2024 197
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7 . Academic Journal
Evaluation of the therapeutic potential of resveratrol-loaded nanostructured lipid carriers on autosomal recessive spastic ataxia of Charlevoix-Saguenay patient-derived fibroblasts
저자
by
Şen, Özlem
;
Emanet, Melis
;
Marino, Attilio
;
Belenli Gümüş, Melike
;
Bartolucci, Martina
, et al.
소스
In
Materials & Design
1 November 2021 209
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7 . Academic Journal
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders
저자
by
Mastrangelo, Mario
;
Sartori, Stefano
;
Simonati, Alessandro
;
Brinciotti, Mario
;
Moro, Francesca
, et al.
소스
In
European Journal of Medical Genetics
December 2019 62(12)
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7 . Academic Journal
SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum.
저자
by
Naef, Valentina
;
Lieto, Maria
;
Satolli, Sara
;
De Micco, Rosa
;
Troisi, Martina
, et al.
소스
Annals of Clinical & Translational Neurology
. Jun2024, p1. 8p. 2 Illustrations.
Open Access (Wiley)
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7 . Academic Journal
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
저자
by
Zanfardino, Paola
;
Amati, Alessandro
;
Doccini, Stefano
;
Cox, Sharon N
;
Tullo, Apollonia
, et al.
소스
Human Molecular Genetics; 5/1/2024, Vol. 33 Issue 9, p768-786, 19p
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7 . Academic Journal
Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain
저자
by
Pezzini, Francesco
;
Fiorini, Michele
;
Doccini, Stefano
;
Santorelli, Filippo Maria
;
Zanusso, Gianluigi
, et al.
소스
In
BBA - Molecular Basis of Disease
August 2023 1869(6)
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7 . Academic Journal
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
저자
by
Caron-Godon, Chenelle A.
;
Della Vecchia, Stefania
;
Romano, Alessandro
;
Doccini, Stefano
;
Dal Canto, Flavio
, et al.
소스
International Journal of Molecular Sciences
. Dec2023, Vol. 24 Issue 23, p16636. 15p.
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7 . Academic Journal
Tanshinone IIA and Cryptotanshinone Counteract Inflammation by Regulating Gene and miRNA Expression in Human SGBS Adipocytes.
저자
by
Carpi, Sara
;
Quarta, Stefano
;
Doccini, Stefano
;
Saviano, Anella
;
Marigliano, Noemi
, et al.
소스
Biomolecules (2218-273X)
. Jul2023, Vol. 13 Issue 7, p1029. 20p.
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7 . Academic Journal
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.
저자
by
Croci, Carolina
;
Cataldi, Matteo
;
Baratto, Serena
;
Bruno, Claudio
;
Trucco, Federica
, et al.
소스
Neuropediatrics
. Jun2023, Vol. 54 Issue 3, p211-216. 6p.
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7 . Academic Journal
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
저자
by
Nesti, Claudia
;
Ticci, Chiara
;
Rubegni, Anna
;
Doccini, Stefano
;
Scaturro, Giusi
, et al.
소스
Journal of Neurology
. Jun2023, Vol. 270 Issue 6, p3266-3269. 4p.
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