Search Results - "Noher, Inés"

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina by Kohan, Romina, Pesaola, Favio, Guelbert, Norberto, Pons, Patricia, Oller-Ramírez, Ana María, Rautenberg, Gisela, Becerra, Adriana, Sims, Katherine, Xin, Winnie, Cismondi, Inés Adriana, de Halac, Inés Noher

“…The Argentinean program was initiated more than a decade ago as the first experience of systematic translational research focused on NCL in Latin America. The…”
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Gerstmann-Sträussler-Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP-P102L Mutation by Riudavets, Miguel A., Sraka, María Alejandra, Schultz, Marcelo, Rojas, Estefanía, Martinetto, Horacio, Begué, Christian, de Halac, Inés Noher, Poleggi, Anna, Equestre, Michele, Pocchiari, Maurizio, Sevlever, Gustavo, Taratuto, Ana Lía

“…Gerstmann‐Sträussler‐Scheinker syndrome (GSS) is a dominantly inherited disorder belonging to the group of transmissible human spongiform encephalopathies or…”
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Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder by Cismondi, Inés Adriana, Kohan, Romina, Adams, Heather, Bond, Mike, Brown, Rachel, Cooper, Jonathan D., de Hidalgo, Perla K., Holthaus, Sophia-Martha Kleine, Mole, Sara E., Mugnaini, Julia, de Ramirez, Ana María Oller, Pesaola, Favio, Rautenberg, Gisela, Platt, Frances M., de Halac, Inés Noher

“…This article addresses the educational issues associated with rare diseases (RD) and in particular the Neuronal Ceroid Lipofuscinoses (NCLs, or CLN diseases)…”
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“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era by Pesaola, Favio, Guelbert, Guillermo, Venier, Ana Clara, Cismondi, Inés Adriana, Becerra, Adriana, Vazquez, Juan Carlos G., Fernandez, Elmer, De Paul, Ana Lucia, Guelbert, Norberto, Noher, Inés

“…ABSTRACT Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of…”
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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis by Fietz, Michael, AlSayed, Moeenaldeen, Burke, Derek, Cohen-Pfeffer, Jessica, Cooper, Jonathan D., Dvořáková, Lenka, Giugliani, Roberto, Izzo, Emanuela, Jahnová, Helena, Lukacs, Zoltan, Mole, Sara E., Noher de Halac, Ines, Pearce, David A., Poupetova, Helena, Schulz, Angela, Specchio, Nicola, Xin, Winnie, Miller, Nicole

“…Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative…”
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Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile ( CLN1) and late infantile ( CLN2) neuronal ceroid lipofuscinoses by Kohan, Romina, Halac, Inés Noher de, Anzolini, Verónica Tapia, Cismondi, Adriana, Ramírez, Ana María Oller, Capra, Ana Paschini, Kremer, Raquel Dodelson de

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Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview by Guelbert, Guillermo, Venier, Ana Clara, Cismondi, Ines Adriana, Becerra, Adriana, Vazquez, Juan Carlos, Fernández, Elmer Andrés, De Paul, Ana Lucía, Guelbert, Norberto, Noher, Ines, Pesaola, Favio

“…Neuronal ceroid lipofuscinoses (NCLs) comprise 13 hereditary neurodegenerative pathologies of very low frequency that affect individuals of all ages around the…”
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Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America by Kohan, Romina, Carabelos, María Noelia, Xin, Winnie, Sims, Katherine, Guelbert, Norberto, Cismondi, Inés Adriana, Pons, Patricia, Alonso, Graciela Irene, Troncoso, Mónica, Witting, Scarlet, Pearce, David A., Dodelson de Kremer, Raquel, Oller-Ramírez, Ana María, Noher de Halac, Inés

“…Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25…”
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Enfermedad CLN8 congénita de lipofuscinosis neuronal ceroidea: un nuevo fenotipo by Pesaola, Favio, Kohan, Romina, Cismondi, Inés Adriana, Guelbert, Norberto, Pons, Patricia, Oller Ramírez, Ana María, Noher de Halac, Inés

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Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease by O'Neal, Matthew, Noher de Halac, Ines, Aylward, Shawn C., Yildiz, Vedat, Zapanta, Bianca, Abreu, Nicolas, de los Reyes, Emily

“…Mutations in the CLN6 gene cause late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood onset. Clinically,…”
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G erstmann‐ S träussler‐ S cheinker Syndrome with Variable Phenotype in a New Kindred with PRNP ‐ P102L Mutation by Riudavets, Miguel A., Sraka, María Alejandra, Schultz, Marcelo, Rojas, Estefanía, Martinetto, Horacio, Begué, Christian, de Halac, Inés Noher, Poleggi, Anna, Equestre, Michele, Pocchiari, Maurizio, Sevlever, Gustavo, Taratuto, Ana Lía

“…G erstmann‐ S träussler‐ S cheinker syndrome ( GSS ) is a dominantly inherited disorder belonging to the group of transmissible human spongiform…”
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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile by Cismondi, I Adriana, Kohan, Romina, Ghio, Addy, Ramirez, Ana M Oller, Halac, Inés Noher

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The neuronal ceroid lipofuscinosis‐related protein CLN8 regulates endo‐lysosomal dynamics and dendritic morphology by Pesaola, Favio, Quassollo, Gonzalo, Venier, Ana Clara, De Paul, Ana Lucía, Noher, Ines, Bisbal, Mariano

“…Background Information The endo‐lysosomal system (ELS) comprises a set of membranous organelles responsible for transporting intracellular and extracellular…”
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Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant by Cismondi, I Adriana, Cannelli, Natalia, Aiello, Chiara, Santorelli, Filippo M, Kohan, Romina, Oller Ramírez, Ana M, Halac, Inés Noher

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Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant by Kohan, Romina, Cannelli, Natalia, Aiello, Chiara, Santorelli, Filippo M, Cismondi, Adriana I, Milà, Montserrat, Oller Ramírez, Ana M, Halac, Inés Noher

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Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile by Kohan, Romina, Muller, Vivien J, Fietz, Michael J, Cismondi, Adriana I, Oller Ramírez, Ana M, Halac, Inés Noher

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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile by Cismondi, I Adriana, Kohan, Romina, Ghio, Addy, Ramirez, Ana M Oller, Halac, Inés Noher

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Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis by Giugliani, Roberto, Fietz, Michael, Al-Sayed, Moeenaldeen, Burke, Derek, Cohen-Pfeffer, Jessica, Cooper, Jonathan D., de Halac, Ines Noher, Dvořáková, Lenka, Izzo, Emanuela, Jahnová, Helena, Lukacs, Zoltan, Mole, Sara, Pearce, David, Schulz, Angela, Specchio, Nicola, Xin, Winnie, Miller, Nicole

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Different Patterns of Callose Wall Formation during Megasporogenesis in Two Species of Oenothera (Onagraceae) by de Halac, Inés Noher, Harte, Cornelia

“…The homozygous Oenothera hookeri Torr. et Gray shows the typical pattern of Onagraceae with ± callose on the external walls of megaspore mother cells and…”
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Distribution of pectins in the pollen apertures of Oenothera hookeri.velans ster/+ster by Noher de Halac, I, Cismondi, I A, Rodriguez-Garcia, M I, Famá, G

“…Cell wall pectins are some of the most complex biopolymers known, and yet their functions remain largely mysterious. The aim of this paper was to deepen the…”
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