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A Ardissone

Showing results (1-10 of 6) with videos related to

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Neuromuscular Disorders : NMD|December 28, 2016
Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable conditionA Ardissone, V Sansone, L Colleoni, et al.
Current Molecular Medicine|October 18, 2014
Mitochondrial Diseases in ChildhoodA Ardissone, E Lamantea, F Invernizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 5, 2013
A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylationS Saredi, S Gibertini, A Ardissone, et al.
Stem Cell Research|May 20, 2025
Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genesL Pollara, E de Gregorio, V Buonofiglio, et al.
Journal of the Neurological Sciences|May 5, 2012
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseS Saredi, A Ardissone, A Ruggieri, et al.
Journal of Neurology|July 12, 2017
Revisiting mitochondrial ocular myopathies: a study from the Italian NetworkD Orsucci, C Angelini, E Bertini, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Neuromuscular Disorders : NMD|December 28, 2016
Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable conditionA Ardissone, V Sansone, L Colleoni, et al.
Current Molecular Medicine|October 18, 2014
Mitochondrial Diseases in ChildhoodA Ardissone, E Lamantea, F Invernizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 5, 2013
A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylationS Saredi, S Gibertini, A Ardissone, et al.
Stem Cell Research|May 20, 2025
Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genesL Pollara, E de Gregorio, V Buonofiglio, et al.
Journal of the Neurological Sciences|May 5, 2012
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseS Saredi, A Ardissone, A Ruggieri, et al.
Journal of Neurology|July 12, 2017
Revisiting mitochondrial ocular myopathies: a study from the Italian NetworkD Orsucci, C Angelini, E Bertini, et al.
Pageof 1