CISMONDI, INÉS ADRIANA

Enfermedad CLN8 congénita de lipofuscinosis neuronal ceroidea: un nuevo fenotipo

REVISTA DE NEUROLOGIA; Lugar: Barcelona; Año: 2019 vol. 68 p. 155 - 159

Experiencia Extensionista: "Viaje al mundo microscópico: Aportes de la microscopía del siglo XXI"

Revista de la Facultad de Odontología; Lugar: Córdoba; Año: 2017 vol. 27 p. 44 - 51

GUIDELINES FOR INCORPORATING SCIENTIFIC KNOWLEDGE AND PRACTICE ON RARE DISEASES INTO HIGHER EDUCATION

Lugar: Amsterdam; Año: 2015

A Translational Research Experience in Latina America: the Study Program of Neuronal Ceroid Lipofuscinoses

Lugar: Amsterdam; Año: 2015 vol. 1852 p. 2316 - 2323

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

Lugar: Amsterdam; Año: 2013 p. 114 - 121

KOHAN ROMINA; CISMONDI INÉS ADRIANA; OLLER RAMÍREZ, ANA MARÍA; GUELBERT, N; TAPIA ANZOLINI, V; ALONSO GRACIELA; MOLE SARA; DODELSON DE KREMER, R; NOHER DE HALAC, R.I.

Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses

Año: 2011 p. 867 - 883

Funtional Characterization of new changes in ABCD1 gene in argentinian patients. SLEIMPN

Revista de Gastroenterología del Perú. Vol 31; Año: 2011 vol. 31 p. 1022 - 5129

KOHAN ROMINA; CISMONDI INÉS ADRIANA; DODELSON DE KREMER, R; MUELLER VIV; GUELBERT N; TAPIA ANZOLINI, V; FIETZ MICHAEL; OLLER RAMÍREZ, ANA MARÍA; NOHER DE HALAC, R.I.

An integrated strategy for the diagnosis of Neuronal Ceroid Lipofuscinoses types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Año: 2009 vol. 76 p. 372 - 382

Novel human pathological mutations. Gene symbol: CLN6. Disease: Neuronal Ceroid Lipofuscinosis, Late infantile.

Año: 2008 vol. 124 p. 323 - 324

Novel human pathological mutations. Gene symbol: CLN6. Disease: Neuronal Ceroid Lipofuscinosis, Late infantile.

Año: 2008 vol. 124 p. 323 - 324

Novel human pathological mutations. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish variant.

Año: 2008 vol. 123 p. 554 - 554

Novel human pathological mutations. Gene symbol: TPPI. Disease: Neuronal Ceroid Lipofuscinosis, Late infantile.

Año: 2008 vol. 123 p. 553 - 553

Novel human pathological mutations. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish variant.

Año: 2008 vol. 123 p. 552 - 552

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

Lugar: SD; Año: 2005 vol. 38 p. 1 - 3

Palmitoyl Protein Thioesterase1 (PPT1) and Tri Peptidyl 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

Año: 2005 vol. 38 p. 492 - 494