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21 . Academic Journal
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.
저자
by
Pulman, Juliette
;
Ruzzenente, Benedetta
;
Horak, Martin
;
Barcia, Giulia
;
Boddaert, Nathalie
, et al.
소스
Molecular Genetics & Metabolism
. Nov2021, Vol. 134 Issue 3, p267-273. 7p.
Full Text (ScienceDirect)
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27 . Academic Journal
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.
저자
by
Hikmat, Omar
;
Isohanni, Pirjo
;
Keshavan, Nandaki
;
Ferla, Matteo P.
;
Fassone, Elisa
, et al.
소스
Annals of Clinical & Translational Neurology
. Nov2021, Vol. 8 Issue 11, p2155-2165. 11p.
Open Access (Wiley)
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27 . Academic Journal
A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.
저자
by
Yalan Zhang
;
Ali, Syed R.
;
Nabbout, Rima
;
Barcia, Giulia
;
Kaczmarek, Leonard K.
.
소스
Journal of Neurophysiology
. Aug2021, Vol. 126 Issue 2, p532-539. 8p. 3 Graphs.
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27 . Periodical
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
저자
by
Aubert Mucca, Marion
;
Patat, Olivier
;
Whalen, Sandra
;
Arnaud, Lionel
;
Barcia, Giulia
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 5 p505-510, 6p
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27 . Academic Journal
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
저자
by
Loiselet, Klervie
;
Ruzzenente, Benedetta
;
Roux, Charles‐Joris
;
Barcia, Giulia
;
Pennisi, Alessandra
, et al.
소스
Developmental Medicine & Child Neurology
. Jun2021, Vol. 63 Issue 6, p705-711. 7p.
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27 . Academic Journal
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
저자
by
Roux, Charles-Joris
;
Barcia, Giulia
;
Schiff, Manuel
;
Sissler, Marie
;
Levy, Raphaël
, et al.
소스
Molecular Genetics & Metabolism
. Jun2021, Vol. 133 Issue 2, p222-229. 8p.
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27 . Academic Journal
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
저자
by
Barcia, Giulia
;
Chemaly, Nicole
;
Gobin, Stephanie
;
Milh, Mathieu
;
Van Bogaert, Patrick
, et al.
소스
In
European Journal of Medical Genetics
January 2014 57(1):15-20
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27 . Periodical
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders
저자
by
Duval, Romain
;
Nicolas, Gaël
;
Willemetz, Alexandra
;
Murakami, Yoshiko
;
Mikdar, Mahmoud
, et al.
소스
Blood; July 2021, Vol. 137 Issue: 26 p3660-3669, 10p
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27 . Academic Journal
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.
저자
by
Bar, Claire
;
Kuchenbuch, Mathieu
;
Barcia, Giulia
;
Schneider, Amy
;
Jennesson, Mélanie
, et al.
소스
Epilepsia (Series 4)
. Nov2020, Vol. 61 Issue 11, p2461-2473. 13p.
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27 . Academic Journal
Improving post-natal detection of mitochondrial DNA mutations.
저자
by
Barcia, Giulia
;
Assouline, Zahra
;
Magen, Maryse
;
Pennisi, Alessandra
;
Rötig, Agnès
, et al.
소스
Expert Review of Molecular Diagnostics; Oct2020, Vol. 20 Issue 10, p1003-1008, 6p
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