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Journal of Telemedicine and Telecare
|
June 6, 2018
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial
Federica Trucco, Marina Pedemonte, Fabrizio Racca, et al.
Neurogenetics
|
January 31, 2008
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
Francesca Madia, Pasquale Striano, Carlo Di Bonaventura, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
July 17, 2019
Novel <i>TRIM32</i> mutation in sarcotubular myopathy
Chiara Panicucci, Monica Traverso, Serena Baratto, et al.
Neurology. Genetics
|
May 27, 2016
White matter involvement in a family with a novel PDGFB mutation
Roberta Biancheri, Mariasavina Severino, Angela Robbiano, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 4, 2012
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families
Monica Traverso, Ozge Ozalp Yuregir, Aviva Mimouni-Bloch, et al.
Biochemical and Biophysical Research Communications
|
June 29, 2023
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders
Antonella Riva, Michele Iacomino, Chiara Piccardo, et al.
JIMD Reports
|
May 1, 2017
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Chiara Panicucci, Chiara Fiorillo, Francesca Moro, et al.
Molecular and Cellular Biology
|
May 9, 2002
Intracellular retention of glycosylphosphatidyl inositol-linked proteins in caveolin-deficient cells
Federica Sotgia, Babak Razani, Gloria Bonuccelli, et al.
The American Journal of Pathology
|
January 12, 2002
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency
Carlo Minetti, Massimo Bado, Paolo Broda, et al.
American Journal of Physiology. Cell Physiology
|
September 30, 2005
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment
Stefania Assereto, Silvia Stringara, Federica Sotgia, et al.
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of 19
Search research articles
Search
Showing results (81-90 of 190) with videos related to
Sort By:
Page
of 19
Journal of Telemedicine and Telecare
|
June 6, 2018
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial
Federica Trucco, Marina Pedemonte, Fabrizio Racca, et al.
Neurogenetics
|
January 31, 2008
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
Francesca Madia, Pasquale Striano, Carlo Di Bonaventura, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
July 17, 2019
Novel <i>TRIM32</i> mutation in sarcotubular myopathy
Chiara Panicucci, Monica Traverso, Serena Baratto, et al.
Neurology. Genetics
|
May 27, 2016
White matter involvement in a family with a novel PDGFB mutation
Roberta Biancheri, Mariasavina Severino, Angela Robbiano, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 4, 2012
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families
Monica Traverso, Ozge Ozalp Yuregir, Aviva Mimouni-Bloch, et al.
Biochemical and Biophysical Research Communications
|
June 29, 2023
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders
Antonella Riva, Michele Iacomino, Chiara Piccardo, et al.
JIMD Reports
|
May 1, 2017
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Chiara Panicucci, Chiara Fiorillo, Francesca Moro, et al.
Molecular and Cellular Biology
|
May 9, 2002
Intracellular retention of glycosylphosphatidyl inositol-linked proteins in caveolin-deficient cells
Federica Sotgia, Babak Razani, Gloria Bonuccelli, et al.
The American Journal of Pathology
|
January 12, 2002
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency
Carlo Minetti, Massimo Bado, Paolo Broda, et al.
American Journal of Physiology. Cell Physiology
|
September 30, 2005
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment
Stefania Assereto, Silvia Stringara, Federica Sotgia, et al.
Page
of 19