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Elisabetta Gazzerro

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Plos One|March 31, 2012
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal proteinElisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, et al.
Archives of Neurology|September 14, 2011
Hypomyelination and congenital cataract: broadening the clinical phenotypeRoberta Biancheri, Federico Zara, Andrea Rossi, et al.
ACS Pharmacology & Translational Science|October 16, 2025
Genetic Deletion of the Purinergic Receptor <i>P2rx7</i> Worsens the Phenotype of α‑Sarcoglycan Muscular DystrophyCecilia Astigiano, Elisa Principi, Sara Pintus, et al.
Nature Cell Biology|November 17, 2015
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membraneJeremy M Baskin, Xudong Wu, Romain Christiano, et al.
Nature Genetics|September 5, 2006
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataractFederico Zara, Roberta Biancheri, Claudio Bruno, et al.
Annals of Neurology|August 9, 2007
Phenotypic characterization of hypomyelination and congenital cataractRoberta Biancheri, Federico Zara, Claudio Bruno, et al.
Brain : a Journal of Neurology|October 28, 2025
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving diseaseAdriana Amaro, Francesco Reggiani, Chiara Panicucci, et al.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
Neurology|June 30, 2012
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophyLuca Bello, Luisa Piva, Andrea Barp, et al.
Journal of Neuromuscular Diseases|November 14, 2022
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European SurveyLynda El-Hassar, Ahmed Amara, Benoit Sanson, et al.
Pageof 5

Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
Plos One|March 31, 2012
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal proteinElisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, et al.
Archives of Neurology|September 14, 2011
Hypomyelination and congenital cataract: broadening the clinical phenotypeRoberta Biancheri, Federico Zara, Andrea Rossi, et al.
ACS Pharmacology & Translational Science|October 16, 2025
Genetic Deletion of the Purinergic Receptor <i>P2rx7</i> Worsens the Phenotype of α‑Sarcoglycan Muscular DystrophyCecilia Astigiano, Elisa Principi, Sara Pintus, et al.
Nature Cell Biology|November 17, 2015
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membraneJeremy M Baskin, Xudong Wu, Romain Christiano, et al.
Nature Genetics|September 5, 2006
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataractFederico Zara, Roberta Biancheri, Claudio Bruno, et al.
Annals of Neurology|August 9, 2007
Phenotypic characterization of hypomyelination and congenital cataractRoberta Biancheri, Federico Zara, Claudio Bruno, et al.
Brain : a Journal of Neurology|October 28, 2025
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving diseaseAdriana Amaro, Francesco Reggiani, Chiara Panicucci, et al.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
Neurology|June 30, 2012
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophyLuca Bello, Luisa Piva, Andrea Barp, et al.
Journal of Neuromuscular Diseases|November 14, 2022
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European SurveyLynda El-Hassar, Ahmed Amara, Benoit Sanson, et al.
Pageof 5