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1 . Academic Journal
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
저자
by
Alari, Valentina
;
Russo, Silvia
;
Terragni, Benedetta
;
Ajmone, Paola Francesca
;
Sironi, Alessandra
, et al.
소스
In
Stem Cell Research
July 2018 30:130-140
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7 . Academic Journal
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
저자
by
Perego, Sara
;
Alari, Valentina
;
Pietra, Gianluca
;
Lamperti, Andrea
;
Vimercati, Alessandro
, et al.
소스
International Journal of Molecular Sciences
. Nov2022, Vol. 23 Issue 22, p14491. 17p.
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7 . Academic Journal
Genes for RNA-binding proteins involved in neuralspecific functions and diseases are downregulated in Rubinstein-Taybi iNeurons.
저자
by
Larizza, Lidia
;
Calzari, Luciano
;
Alari, Valentina
;
Russo, Silvia
.
소스
Neural Regeneration Research; Jan2022, Vol. 17 Issue 1, p5-14, 14p
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6 . Academic Journal
Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1 -Related and Rubinstein–Taybi Intellectual Disability Syndromes.
저자
by
Larizza, Lidia
;
Alari, Valentina
;
Calzari, Luciano
;
Russo, Silvia
.
소스
Frontiers in Neuroscience; 10/25/2021, Vol. 15, p1-5, 5p
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6 .
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations
저자
by
Alari, Valentina
;
Russo, Silvia
;
Rovina, Davide
;
Garzo, Maria
;
Crippa, Milena
, et al.
소스
In
Stem Cell Research
October 2019 40
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7 .
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)
저자
by
Alari, Valentina
;
Russo, Silvia
;
Rovina, Davide
;
Gowran, Aoife
;
Garzo, Maria
, et al.
소스
In
Stem Cell Research
July 2018 30:175-179
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7 . Academic Journal
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.
저자
by
Cacciatori, Elena
;
Lelii, Mara
;
Russo, Silvia
;
Alari, Valentina
;
Masciadri, Maura
, et al.
소스
American Journal of Medical Genetics. Part A; Dec2020, Vol. 182 Issue 12, p2982-2987, 6p
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7 . Academic Journal
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.
저자
by
Calzari, Luciano
;
Barcella, Matteo
;
Alari, Valentina
;
Braga, Daniele
;
Muñoz-Viana, Rafael
, et al.
소스
Molecular Neurobiology; Sep2020, Vol. 57 Issue 9, p3685-3701, 17p
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7 .
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
저자
by
Sara Perego
;
Valentina Alari
;
Gianluca Pietra
;
Andrea Lamperti
;
Alessandro Vimercati
, et al.
소스
International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 14491
Open Access (OpenAIRE)
Scopus
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7 . Academic Journal
The POF1B candidate gene for premature ovarian failure regulates epithelial polarity.
저자
by
Padovano, Valeria
;
Lucibello, Ilaria
;
Alari, Valentina
;
Della Mina, Pamela
;
Crespi, Arianna
, et al.
소스
Journal of Cell Science
. 10/1/2011, Vol. 124 Issue 19, p1-4. 4p.
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