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1 . Academic Journal
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
저자
by
Eleonora Bonaventura
;
Rita Barone
;
Luisa Sturiale
;
Rosa Pasquariello
;
Maria Grazia Alessandrì
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
저자
by
Maria Grazia Alessandrì
;
Francesca Strigini
;
Giovanni Cioni
;
Roberta Battini
.
소스
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-5 (2020)
Open Access (BioMed Central)
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6 . Academic Journal
A novel mouse model of creatine transporter deficiency [v2; ref status: indexed, http://f1000r.es/4zb]
저자
by
Laura Baroncelli
;
Maria Grazia Alessandrì
;
Jonida Tola
;
Elena Putignano
;
Martina Migliore
, et al.
소스
F1000Research, Vol 3 (2015)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
A novel mouse model of creatine transporter deficiency [v1; ref status: indexed, http://f1000r.es/4f8]
저자
by
Laura Baroncelli
;
Maria Grazia Alessandrì
;
Jonida Tola
;
Elena Putignano
;
Martina Migliore
, et al.
소스
F1000Research, Vol 3 (2014)
Open Access (DOAJ)
Scopus
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7 .
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
저자
by
Luisa Sturiale
;
Rita Barone
;
Maria Grazia Alessandrì
;
Rosa Pasquariello
;
Anna Maria Pinto
, et al.
소스
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 16 (2021). doi:10.1186/s13023-021-01941-y
info:cnr-pdr/source/autori:Bonaventura, Eleonora; Barone, Rita; Sturiale, Luisa; Pasquariello, Rosa; Alessandri, Maria Grazia; Pinto, Anna Maria; Renieri, Alessandra; Panteghini, Celeste; Garavaglia, Barbara; Cioni, Giovanni; Battini, Roberta/titolo:Clinical, molecular and glycophenotype insights in SLC39A8-CDG/doi:10.1186%2Fs13023-021-01941-y/rivista:Orphanet journal of rare diseases/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:16
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
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7 .
Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency
저자
by
Tommaso Pizzorusso
;
Francesco Cacciante
;
John C. McKew
;
Elena Putignano
;
Giovanni Cioni
, et al.
소스
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports
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7 .
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
저자
by
Francesca Anna Letizia Strigini
;
Giovanni Cioni
;
Maria Grazia Alessandrì
;
Roberta Battini
.
소스
BMC Pregnancy and Childbirth
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-5 (2020)
Open Access (BioMed Central)
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Scopus
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6 .
Novel translational phenotypes and biomarkers for creatine transporter deficiency
저자
by
Elena Putignano
;
Leonardo Lupori
;
Tommaso Pizzorusso
;
Laura Baroncelli
;
Roberta Battini
, et al.
소스
Brain Communications
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7 . Academic Journal
Influence of Dosage, Age, and Co-medication on Plasma Topiramate Concentrations in Children and Adults with Severe Epilepsy and Preliminary Observations on Correlations with Clinical Response.
저자
by
Anna Rita Ferrari
;
Renzo Guerrini
;
Giuliana Gatti
;
Maria Grazia Alessandrì
;
Paolo Bonanni
, et al.
소스
Therapeutic Drug Monitoring; Dec2003, Vol. 25 Issue 6, p700-708, 9p
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7 .
Brain mitochondrial proteome alteration driven by creatine deficiency suggests novel therapeutic venues for creatine deficiency syndromes
저자
by
Antonio Lucacchini
;
Laura Baroncelli
;
Andrea Urbani
;
Maria Rosa Mazzoni
;
Tommaso Pizzorusso
, et al.
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Neuroscience
. 409
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