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1 . Academic Journal
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease
저자
by
Céline Schaeffer
;
Maurizio De Fusco
;
Elena Pasqualetto
;
Caterina Scolari
;
Claudia Izzi
, et al.
소스
Disease Models & Mechanisms, Vol 16, Iss 6 (2023)
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7 . Academic Journal
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response
저자
by
Francesco Consolato
;
Maurizio De Fusco
;
Céline Schaeffer
;
Federico Pieruzzi
;
Francesco Scolari
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100926- (2022)
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7 . Academic Journal
Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.
저자
by
Loredana Leo
;
Lisa Gherardini
;
Virginia Barone
;
Maurizio De Fusco
;
Daniela Pietrobon
, et al.
소스
PLoS Genetics, Vol 7, Iss 6, p e1002129 (2011)
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7 .
Misrouting to mitochondria of renin carrying dominant mutations in the leader peptide or pro-segment
저자
by
Céline Schaeffer
;
Maurizio De Fusco
;
Elena Pasqualetto
;
Caterina Scolari
;
Claudia Izzi
, et al.
소스
Disease Models & Mechanisms
.
Open Access (OpenAIRE)
Scopus
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7 . Academic Journal
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.
저자
by
Roberto Marconi
;
Maurizio De Fusco
;
Paolo Aridon
;
Katrin Plewnia
;
Maja Rossi
, et al.
소스
Annals of Neurology; Mar2003, Vol. 53 Issue 3, p376-381, 6p
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7 .
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model
저자
by
Baptiste Fischer
;
Inge A. Meijer
;
Renzo Guerrini
;
Naomi Lubarr
;
Paolo Aridon
, et al.
소스
Brain
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7 .
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy
저자
by
Federico Zara
;
Yunjia Chen
;
Carlo Di Bonaventura
;
Renzo Guerrini
;
Shmuel Muallem
, et al.
소스
Annals of Neurology
. 75:77-87
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7 .
A TRAPPC6B splicing variant associates to restless legs syndrome
저자
by
Valentina Arnao
;
Juliane Winkelmann
;
Luigi Ferini-Strambi
;
Paolo Aridon
;
Giorgio Casari
, et al.
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7 .
No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures
저자
by
Giorgio Casari
;
Renzo Guerrini
;
Filippo Martinelli Boneschi
;
Federico Zara
;
Paolo Aridon
, et al.
소스
Neuroscience Letters
. 388:71-74
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7 .
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23
저자
by
Giuseppe De Michele
;
Letterio Morgante
;
Katrin Plewnia
;
Maja Rossi
;
Sadia Carapelli
, et al.
소스
Annals of Neurology
. 53:376-381
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