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Orphanet Journal of Rare Diseases
|
February 5, 2013
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
Filippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, et al.
Seminars in Pediatric Neurology
|
June 19, 2012
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation
Celeste Panteghini, Giovanna Zorzi, Paola Venco, et al.
Epilepsy & Behavior : E&B
|
November 30, 2006
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
Pasquale Striano, Nicola Specchio, Roberta Biancheri, et al.
Cell Death Discovery
|
April 8, 2020
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction
Stefano Doccini, Federica Morani, Claudia Nesti, et al.
Cells
|
June 10, 2022
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease
Stefano Doccini, Maria Marchese, Federica Morani, et al.
Data in Brief
|
July 29, 2015
Quantitative analysis of PPT1 interactome in human neuroblastoma cells
Enzo Scifo, Agnieszka Szwajda, Rabah Soliymani, et al.
Journal of Proteomics
|
April 14, 2015
Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells
Enzo Scifo, Agnieszka Szwajda, Rabah Soliymani, et al.
The Lancet. Child & Adolescent Health
|
August 19, 2018
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
Miriam Nickel, Alessandro Simonati, David Jacoby, et al.
Orphanet Journal of Rare Diseases
|
June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
Serena Grossi, Stefano Regis, Roberta Biancheri, et al.
Pediatric Neurology
|
May 17, 2021
Management of CLN1 Disease: International Clinical Consensus
Erika F Augustine, Heather R Adams, Emily de Los Reyes, et al.
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Search research articles
Search
Showing results (51-60 of 76) with videos related to
Sort By:
Page
of 8
Orphanet Journal of Rare Diseases
|
February 5, 2013
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
Filippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, et al.
Seminars in Pediatric Neurology
|
June 19, 2012
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation
Celeste Panteghini, Giovanna Zorzi, Paola Venco, et al.
Epilepsy & Behavior : E&B
|
November 30, 2006
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
Pasquale Striano, Nicola Specchio, Roberta Biancheri, et al.
Cell Death Discovery
|
April 8, 2020
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction
Stefano Doccini, Federica Morani, Claudia Nesti, et al.
Cells
|
June 10, 2022
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease
Stefano Doccini, Maria Marchese, Federica Morani, et al.
Data in Brief
|
July 29, 2015
Quantitative analysis of PPT1 interactome in human neuroblastoma cells
Enzo Scifo, Agnieszka Szwajda, Rabah Soliymani, et al.
Journal of Proteomics
|
April 14, 2015
Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells
Enzo Scifo, Agnieszka Szwajda, Rabah Soliymani, et al.
The Lancet. Child & Adolescent Health
|
August 19, 2018
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
Miriam Nickel, Alessandro Simonati, David Jacoby, et al.
Orphanet Journal of Rare Diseases
|
June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
Serena Grossi, Stefano Regis, Roberta Biancheri, et al.
Pediatric Neurology
|
May 17, 2021
Management of CLN1 Disease: International Clinical Consensus
Erika F Augustine, Heather R Adams, Emily de Los Reyes, et al.
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of 8