Browsing FCM - Congresos 2013 by Author "Noher de Halac, Rita Inés"

Now showing items 1-3 of 3

    • A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America 

      Pesaola, Favio; Sismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, Noelia; Alonso, Graciela; Pons, Patricia; Oller Ramírez, Ana María; Noher de Halac, Rita Inés (2013)
      Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with storage oflipofuscin-like lipopigments in cerebral neurons and peripheraltissues. Mutations in CLN8 gene causing epilepsy ...

    • A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America 

      Pesaola, Favio; Cismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, María Noelia; Alonso, Graciela; Pons, Patricia; Noher de Halac, Rita Inés; Oller Ramírez, Ana María (2013)
      Introduction: Neuronal ceroid lipofuscinosis (NCL), inherited neurodegenerative diseases of all ages, presents with storage of lipofuscin-like lipopigments in cerebral neurons and peripheral tissues. Mutations in CLN8 ...

    • Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America 

      Sismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, Noelia; Alonso, Graciela; Pons, Patricia; Oller Ramírez, Ana María; Noher de Halac, Rita Inés; Dodelson de Kremer, Raquel (2013)
      The Neuronal Ceroid Lipofuscinoses (NCLs), inherited neurodegenerative disorders, are the second most frequent group lysosomal pathologies (LP) of childhood. They are characterized by the pathological accumulation of ...