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Author/Creator Meschini, Maria Chiara

1. A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalonic Aciduria. (February 2015)

Authors:
Nogueira, Célia; Meschini, Maria Chiara; Nesti, Claudia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Costa, Ricardo; Videira, Arnaldo; Vilarinho, Laura; Santorelli, Filippo M.
Journal:
Journal of child neurology
Issue:
Volume 30:Number 2(2015:Feb.)
Page Start:
228
Record Type:
Journal Article
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3. Novel MTCYB mutation in a young patient with recurrent stroke‐like episodes and status epilepticus. Issue 11 (14th August 2014)

Authors:
Mancuso, Michelangelo; Nesti, Claudia; Ienco, Elena Caldarazzo; Orsucci, Daniele; Pizzanelli, Chiara; Chiti, Alberto; Giorgi, Filippo S; Meschini, Maria Chiara; Fontanini, Gabriella; Santorelli, Filippo Maria; Logerfo, Annalisa; Romano, Alessandro; Siciliano, Gabriele; Bonuccelli, Ubaldo
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 11(2014.)
Page Start:
2922
Record Type:
Journal Article
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4. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. Issue 1 (8th May 2012)

Authors:
Cassandrini, Denise; Cilio, Maria Roberta; Bianchi, Marzia; Doimo, Mara; Balestri, Martina; Tessa, Alessandra; Rizza, Teresa; Sartori, Geppo; Meschini, Maria Chiara; Nesti, Claudia; Tozzi, Giulia; Petruzzella, Vittoria; Piemonte, Fiorella; Bisceglia, Luigi; Bruno, Claudio; Dionisi‐Vici, Carlo; D'...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 1(2013)
Page Start:
43
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗