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1 . Academic Journal
An attenuated, adult case of AADC deficiency demonstrated by protein characterization
저자
by
Giovanni Bisello
;
Christiaan G.J. Saris
;
Rossella Franchini
;
Marcel M. Verbeek
;
Michel A.A.P. Willemsen
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101071- (2024)
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7 . Academic Journal
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants
저자
by
Ida Cursio
;
Sabrina Siliquini
;
Claudia Carducci
;
Giovanni Bisello
;
Mario Mastrangelo
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population
저자
by
Giovanni Bisello
;
Mariarita Bertoldi
.
소스
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11238 (2022)
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4 . Academic Journal
Tyrosine Phosphorylation Modulates Peroxiredoxin-2 Activity in Normal and Diseased Red Cells
저자
by
Alessandro Mattè
;
Enrica Federti
;
Elena Tibaldi
;
Maria Luisa Di Paolo
;
Giovanni Bisello
, et al.
소스
Antioxidants, Vol 10, Iss 2, p 206 (2021)
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7 . Academic Journal
The influence of N-terminal acetylation on micelle-induced conformational changes and aggregation of α-Synuclein.
저자
by
David Ruzafa
;
Yuriko S Hernandez-Gomez
;
Giovanni Bisello
;
Kerensa Broersen
;
Bertrand Morel
, et al.
소스
PLoS ONE, Vol 12, Iss 5, p e0178576 (2017)
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7 .
Aromatic
l
-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies
저자
by
Giada Rossignoli
;
Simon Pope
;
Eleonora Lugarà
;
Joanne Ng
;
Mariarita Bertoldi
, et al.
소스
Brain
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7 .
PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
저자
by
Nastassja Himmelreich
;
Mariarita Bertoldi
;
Giovanni Bisello
;
Yair Anikster
;
Bruria Ben Zeev
, et al.
소스
Molecular Genetics and Metabolism
. 138:107421
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7 .
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
저자
by
Giovanni Bisello
;
Katarzyna Kusmierska
;
Marcel M. Verbeek
;
Jolanta Sykut–Cegielska
;
Michèl A. A. P. Willemsen
, et al.
소스
Cellular and Molecular Life Sciences, 79
Cellular and Molecular Life Sciences, 79, 6
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7 .
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
저자
by
Mariarita Bertoldi
;
Heiko Brennenstuhl
;
Carmen Longo
;
Thomas Opladen
;
Luana Palazzi
, et al.
소스
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7 .
Tyrosine phosphorylation modulates peroxiredoxin-2 activity in normal and diseased red cells
저자
by
Anna Maria Brunati
;
Dae Won Kim
;
Anand B. Wilson
;
Iana Iatchencko
;
Enrica Federti
, et al.
소스
Antioxidants, Vol 10, Iss 206, p 206 (2021)
Antioxidants
Volume 10
Issue 2
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