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1 . Academic Journal
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
저자
by
Cecilia Mancini
;
Eriola Hoxha
;
Luisa Iommarini
;
Alessandro Brussino
;
Uwe Richter
, et al.
소스
Neurobiology of Disease, Vol 124, Iss , Pp 14-28 (2019)
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7 . Academic Journal
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
저자
by
Slavica Trajkova
;
Eleonora Di Gregorio
;
Giovanni Battista Ferrero
;
Diana Carli
;
Lisa Pavinato
, et al.
소스
Brain Sciences, Vol 10, Iss 11, p 788 (2020)
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7 . Academic Journal
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice
저자
by
Eriola Hoxha
;
Rebecca M. C. Gabriele
;
Ilaria Balbo
;
Francesco Ravera
;
Linda Masante
, et al.
소스
Frontiers in Cellular Neuroscience, Vol 11 (2017)
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7 . Academic Journal
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
저자
by
Laura Cristina Gironi
;
Enrico Colombo
;
Alfredo Brusco
;
Enrico Grosso
;
Valeria Giorgia Naretto
, et al.
소스
Medicina, Vol 55, Iss 7, p 345 (2019)
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7 . Academic Journal
A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
저자
by
Giorgia Mandrile
;
Eleonora Di Gregorio
;
Alessandro Calcia
;
Alessandro Brussino
;
Enrico Grosso
, et al.
소스
Case Reports in Genetics, Vol 2014 (2014)
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7 . Academic Journal
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
저자
by
Maria Clara Bonaglia
;
Roberto Giorda
;
Silvana Beri
;
Cristina De Agostini
;
Francesca Novara
, et al.
소스
PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)
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7 .
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (
CDH
+) using
DECIPHER
data
저자
by
Amy Hardcastle
;
Aliska M. Berry
;
Ian M. Campbell
;
Xiaonan Zhao
;
Pengfei Liu
, et al.
소스
American Journal of Medical Genetics Part A
. 188:2958-2968
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7 .
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
저자
by
Enza Ferrero
;
Eleonora Di Gregorio
;
Marta Ferrero
;
Erika Ortolan
;
Young-Ah Moon
, et al.
소스
Open Access (OpenAIRE)
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7 .
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
저자
by
Laura Palmer Mackay
;
Valeria Giorgia Naretto
;
Daryl A. Scott
;
Lorraine Potocki
;
Andres Hernandez-Garcia
, et al.
소스
Am J Med Genet A
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7 .
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
저자
by
Simona Cavalieri
;
Stefania Augeri
;
Maria Vinciguerra
;
Ada Funaro
;
Evelise Riberi
, et al.
소스
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-8 (2020)
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