Percorrer por autor Santorelli, Filippo

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DataTítuloAutor(es)TipoAcesso
Nov-2012Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Portuguese FamilyNogueira, Célia; Nesti, Claudia; Meschini, Maria Chiara; Carrozzo, Rosalba; Barros, Jose; Sá, Maria José; Azevedo, Luisa; Vilarinho, Laura; Santorelli, FilippoconferenceObjectopenAccess
Set-2013Biochemical data as important clues for diagnosis of SUCLA2 defectsNogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
Set-2013Complex III deficiency in a Portuguese family: expanding the clinical phenotypeNogueira, Célia; Nesti, Claudia; Meschini, M. Clara; Carrozzo, Rosalba; Barros, José; Sá, Maria José; Azevedo, Luisa; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
Jun-2012Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiencyNogueira, Célia; Barros, José; Sá, Maria José; Azevedo, Luisa; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
Dez-2013Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndromeNogueira, Célia; Sales Marques, Jorge; Nesti, Claudia; Azevedo, Luisa; Di Lullo, Martina; Meschini, M. Clara; Santorelli, Filippo; Vilarinho, LauraarticleembargoedAccess
13-Mai-2011Infantile-Onset Disorders of Mitochondrial Replication and Protein SynthesisNogueira, Célia; Carrozzo, Rosalba; Vilarinho, Laura; Santorelli, FilippoarticlerestrictedAccess
Nov-2012Molecular investigation of pediatric Portuguese patients with sensorineural hearing lossNogueira, Célia; Coutinho, Miguel; Pereira, Cristina; Tessa, Alessandra; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
Mar-2013MPV17: fatal hepatocerebral presentationNogueira, Célia; Souza, Carolina; Husny, Antonette; Derks, Terry; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
23-Out-2012MPV17: fatal hepatocerebral presentation in a Brazilian infantNogueira, Célia; Souza, Carolina; Husny, A.; Derks, Terry; Santorelli, Filippo; Vilarinho, LauraarticlerestrictedAccess
Nov-2012A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduriaNogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess
Jun-2013A novel SUCLA2 mutation in a Portuguese patientNogueira, Célia; Garcia, Paula; Diogo, Luísa; Valongo, Carla; Santorelli, Filippo; Vilarinho, LauraconferenceObjectopenAccess