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1 . Academic Journal
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
저자
by
Assereto, Stefania
;
Piccirillo, Rosanna
;
Baratto, Serena
;
Scudieri, Paolo
;
Fiorillo, Chiara
, et al.
소스
In
Laboratory Investigation
August 2016 96(8):862-871
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7 . Academic Journal
Corrigendum to “Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation” [Brain Dev. 38(1) (2016) 128–131]
저자
by
Dilena, Robertino
;
Striano, Pasquale
;
Traverso, Monica
;
Viri, Maurizio
;
Cristofori, Gloria
, et al.
소스
In
Brain and Development
February 2024 46(2):124-124
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7 . Academic Journal
A new case of TRIM32/ASTN2 deletions confirm the association of LMGD with MCI
저자
by
Bencivenga, Roberta
;
Traverso, Monica
;
Giaquinto, Emanuele
;
Iodice, Rosa
;
Manganelli, Fiore
, et al.
소스
In
Journal of the Neurological Sciences
October 2021 429 Supplement
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7 . Academic Journal
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
저자
by
Panicucci, Chiara
;
Casalini, Sara
;
Traverso, Monica
;
Brolatti, Noemi
;
Baratto, Serena
, et al.
소스
Neuropediatrics
. Dec2023, Vol. 54 Issue 6, p426-429. 4p.
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7 .
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion
저자
by
Conteduca, Giuseppina
;
Baldo, Chiara
;
Arado, Alessia
;
Traverso, Monica
;
Testa, Barbara
, et al.
소스
In
Stem Cell Research
February 2023 66
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7 . Periodical
DAG1haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
저자
by
Traverso, Monica
;
Baratto, Serena
;
Iacomino, Michele
;
Di Duca, Marco
;
Panicucci, Chiara
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-8, 8p
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7 . Academic Journal
A clinical and genetic study of 33 new cases with early-onset absence epilepsy
저자
by
Giordano, Lucio
;
Vignoli, Aglaia
;
Accorsi, Patrizia
;
Galli, Jessica
;
Pezzella, Marianna
, et al.
소스
In
Epilepsy Research
August 2011 95(3):221-226
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7 . Academic Journal
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review.
저자
by
Dainelli, Alice
;
Iacomino, Michele
;
Rossato, Sara
;
Bugin, Samuela
;
Traverso, Monica
, et al.
소스
Epilepsia Open; Dec2023, Vol. 8 Issue 4, p1314-1330, 17p
Open Access (Wiley)
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7 . Academic Journal
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
저자
by
Massucco, Sara
;
Gemelli, Chiara
;
Bellone, Emilia
;
Geroldi, Alessandro
;
Patrone, Serena
, et al.
소스
Acta Myologica; Dec2023, Vol. 42 Issue 4, p113-117, 5p
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7 . Academic Journal
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy
저자
by
Stella Vari, Maria
;
Traverso, Monica
;
Bellini, Tommaso
;
Madia, Francesca
;
Pinto, Francesca
, et al.
소스
In
Seizure: European Journal of Epilepsy
April 2018 57:63-65
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