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Journal of Medical Genetics
|
June 3, 2004
A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome
M Mancuso, C Vives-Bauza, M Filosto, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 18, 2009
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C
M Filosto, P Tonin, G Vattemi, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
November 24, 2011
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
G Vattemi, M Neri, S Piffer, et al.
Brain Pathology (Zurich, Switzerland)
|
April 17, 2001
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy
G Zanusso, G Vattemi, S Ferrari, et al.
Current Molecular Medicine
|
June 5, 2014
Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases
D Orsucci, A Rocchi, E Caldarazzo Ienco, et al.
European Journal of Neurology
|
January 31, 2026
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia
T Kyriakides, K Aleksovska, C Angelini, et al.
Journal of Neurology
|
July 14, 2021
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
V Montano, D Orsucci, V Carelli, et al.
Neuropathology and Applied Neurobiology
|
June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)
M Ripolone, R Violano, D Ronchi, et al.
Journal of Neurology
|
July 11, 2025
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa
T Mongini, G Gadaleta, P Alonge, et al.
Journal of Neurology
|
November 15, 2011
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
C Angelini, C Semplicini, S Ravaglia, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 36) with videos related to
Sort By:
Page
of 4
Journal of Medical Genetics
|
June 3, 2004
A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome
M Mancuso, C Vives-Bauza, M Filosto, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 18, 2009
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C
M Filosto, P Tonin, G Vattemi, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
November 24, 2011
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
G Vattemi, M Neri, S Piffer, et al.
Brain Pathology (Zurich, Switzerland)
|
April 17, 2001
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy
G Zanusso, G Vattemi, S Ferrari, et al.
Current Molecular Medicine
|
June 5, 2014
Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases
D Orsucci, A Rocchi, E Caldarazzo Ienco, et al.
European Journal of Neurology
|
January 31, 2026
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia
T Kyriakides, K Aleksovska, C Angelini, et al.
Journal of Neurology
|
July 14, 2021
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
V Montano, D Orsucci, V Carelli, et al.
Neuropathology and Applied Neurobiology
|
June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)
M Ripolone, R Violano, D Ronchi, et al.
Journal of Neurology
|
July 11, 2025
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa
T Mongini, G Gadaleta, P Alonge, et al.
Journal of Neurology
|
November 15, 2011
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
C Angelini, C Semplicini, S Ravaglia, et al.
Page
of 4