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Alessandro Simonati

Showing results (61-70 of 76) with videos related to

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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experienceJacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Nature Cell Biology|November 7, 2018
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesisAlberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2017
Survey on treatments for primary headaches in 13 specialized juvenile Headache Centers: The first multicenter Italian studyIrene Toldo, Martina Rattin, Egle Perissinotto, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Biochemical and Biophysical Research Communications|January 13, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati, et al.
Orphanet Journal of Rare Diseases|April 22, 2021
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsSara E Mole, Angela Schulz, Eben Badoe, et al.
Nature Genetics|October 9, 2002
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumHeidi C Howard, David B Mount, Daniel Rochefort, et al.
Journal of Neurology|October 15, 2025
Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Journal of Neurology|January 8, 2025
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.
Pageof 8

Showing results (61-70 of 76) with videos related to

Sort By:
Pageof 8
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experienceJacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Nature Cell Biology|November 7, 2018
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesisAlberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2017
Survey on treatments for primary headaches in 13 specialized juvenile Headache Centers: The first multicenter Italian studyIrene Toldo, Martina Rattin, Egle Perissinotto, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Biochemical and Biophysical Research Communications|January 13, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati, et al.
Orphanet Journal of Rare Diseases|April 22, 2021
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsSara E Mole, Angela Schulz, Eben Badoe, et al.
Nature Genetics|October 9, 2002
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumHeidi C Howard, David B Mount, Daniel Rochefort, et al.
Journal of Neurology|October 15, 2025
Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Journal of Neurology|January 8, 2025
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.
Pageof 8