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Journal of Inherited Metabolic Disease
|
April 10, 2009
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene
C Lamperti, S Salani, S Lucchiari, et al.
Annals of Neurology
|
February 5, 1998
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
G P Comi, A Bordoni, S Salani, et al.
European Journal of Neurology
|
November 27, 2019
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy
V Galimberti, R Tironi, A Lerario, et al.
Neurology
|
October 22, 1998
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome
A Papadimitriou, G P Comi, G M Hadjigeorgiou, et al.
Experimental Cell Research
|
June 14, 2002
A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse
S Corti, S Strazzer, R Del Bo, et al.
Neurology
|
October 24, 2008
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
R Del Bo, M Moggio, M Rango, et al.
Clinical Genetics
|
February 20, 2018
Expanding the histopathological spectrum of CFL2-related myopathies
F Fattori, C Fiorillo, C Rodolico, et al.
Neuromuscular Disorders : NMD
|
March 3, 2015
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family
I Colombo, S Pagliarani, S Testolin, et al.
Journal of Medical Genetics
|
December 20, 2003
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes
M Vytopil, S Benedetti, E Ricci, et al.
European Journal of Neurology
|
October 14, 2017
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy
A Cortese, M Laurà, C Casali, et al.
Page
of 13
Search research articles
Search
Showing results (101-110 of 121) with videos related to
Sort By:
Page
of 13
Journal of Inherited Metabolic Disease
|
April 10, 2009
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene
C Lamperti, S Salani, S Lucchiari, et al.
Annals of Neurology
|
February 5, 1998
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
G P Comi, A Bordoni, S Salani, et al.
European Journal of Neurology
|
November 27, 2019
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy
V Galimberti, R Tironi, A Lerario, et al.
Neurology
|
October 22, 1998
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome
A Papadimitriou, G P Comi, G M Hadjigeorgiou, et al.
Experimental Cell Research
|
June 14, 2002
A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse
S Corti, S Strazzer, R Del Bo, et al.
Neurology
|
October 24, 2008
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
R Del Bo, M Moggio, M Rango, et al.
Clinical Genetics
|
February 20, 2018
Expanding the histopathological spectrum of CFL2-related myopathies
F Fattori, C Fiorillo, C Rodolico, et al.
Neuromuscular Disorders : NMD
|
March 3, 2015
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family
I Colombo, S Pagliarani, S Testolin, et al.
Journal of Medical Genetics
|
December 20, 2003
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes
M Vytopil, S Benedetti, E Ricci, et al.
European Journal of Neurology
|
October 14, 2017
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy
A Cortese, M Laurà, C Casali, et al.
Page
of 13