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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.160-167

2016

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Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

Frontiers in neurology, 2022-08, Vol.13, p.920421-920421

2022

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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

Gene, 2013-03, Vol.516 (1), p.114-121

2013

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Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease

Pediatric neurology, 2024-05, Vol.154, p.51-57

2024

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The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Biochimica et biophysica acta. Molecular basis of disease, 2015-10, Vol.1852 (10), p.2301-2311

2015

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Gerstmann-Sträussler-Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP-P102L Mutation

Brain pathology (Zurich, Switzerland), 2014-03, Vol.24 (2), p.142-147

2014

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The neuronal ceroid lipofuscinosis‐related protein CLN8 regulates endo‐lysosomal dynamics and dendritic morphology

Biology of the cell, 2021-10, Vol.113 (10), p.419-437

2021

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Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

Biochimica et biophysica acta. Molecular basis of disease, 2015-10, Vol.1852 (10), p.2316-2323

2015

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“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Journal of inborn errors of metabolism and screening, 2021, Vol.9

2021

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Enfermedad CLN8 congénita de lipofuscinosis neuronal ceroidea: un nuevo fenotipo

Revista de neurologiá, 2019-02, Vol.68 (4), p.155

2019

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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

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S61-S61

2016

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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

Clinical biochemistry, 2005-05, Vol.38 (5), p.492-494

2005

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Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype

Revista de neurologiá, 2019-02, Vol.68 (4), p.155-159

2019

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G erstmann‐ S träussler‐ S cheinker Syndrome with Variable Phenotype in a New Kindred with PRNP ‐ P102L Mutation

Brain pathology (Zurich, Switzerland), 2014-03, Vol.24 (2), p.142-147

2014

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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile

Human genetics, 2008-10, Vol.124 (3), p.323-324

2008

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Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant

Human genetics, 2008-06, Vol.123 (5), p.554

2008

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Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant

Human genetics, 2008-06, Vol.123 (5), p.552

2008

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Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile

Human genetics, 2008-06, Vol.123 (5), p.553-553

2008

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Histoenzymology of oxidases and dehydrogenases in peripheral blood lymphocytes and monocytes for the study of mitochondrial oxidative phosphorylation

Journal of molecular histology, 2000-03, Vol.32 (3), p.133-137

2000

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Genetics and development of morphological and physiological characters of male sterility in Oenothera

Protoplasma, 1995-03, Vol.187 (1/4), p.22-30

1995

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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile

Human genetics, 2008-10, Vol.124 (3), p.324-324

2008

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Organogenesis of anther-derived calluses in long-term cultures of Oenothera hookeri de Vries

Plant cell, tissue and organ culture, 1995-07, Vol.42 (1), p.91-96

1995

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Distribution of pectins in the pollen apertures of Oenothera hookeri.velans ster/+ster

Biocell, 2003-04, Vol.27 (1), p.11-18

2003

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Pollen ontogenesis in Oenothera: a comparison of genotypically normal anthers with the male-sterile mutant sterilis

Sexual plant reproduction, 1990-02, Vol.3 (1), p.41-53

1990

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Different Patterns of Callose Wall Formation during Megasporogenesis in Two Species of Oenothera (Onagraceae)

Plant systematics and evolution, 1977-03, Vol.127 (1), p.23-38

1977

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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

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

Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Gerstmann-Sträussler-Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP-P102L Mutation

The neuronal ceroid lipofuscinosis‐related protein CLN8 regulates endo‐lysosomal dynamics and dendritic morphology

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Enfermedad CLN8 congénita de lipofuscinosis neuronal ceroidea: un nuevo fenotipo

Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis

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

Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype

G erstmann‐ S träussler‐ S cheinker Syndrome with Variable Phenotype in a New Kindred with PRNP ‐ P102L Mutation

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant

Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile

Histoenzymology of oxidases and dehydrogenases in peripheral blood lymphocytes and monocytes for the study of mitochondrial oxidative phosphorylation

Genetics and development of morphological and physiological characters of male sterility in Oenothera

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile

Organogenesis of anther-derived calluses in long-term cultures of Oenothera hookeri de Vries

Distribution of pectins in the pollen apertures of Oenothera hookeri.velans ster/+ster

Pollen ontogenesis in Oenothera: a comparison of genotypically normal anthers with the male-sterile mutant sterilis

Different Patterns of Callose Wall Formation during Megasporogenesis in Two Species of Oenothera (Onagraceae)

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