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Proceedings of the National Academy of Sciences of the United States of America
|
May 15, 1992
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
A Chomyn, A Martinuzzi, M Yoneda, et al.
Neuromuscular Disorders : NMD
|
September 27, 2012
Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes
K Kiiski, L Laari, V-L Lehtokari, et al.
Neurology
|
April 2, 1999
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population
F L Chou, C Angelini, D Daentl, et al.
Nucleic Acids Research
|
September 11, 1992
Differential DNA binding properties of three human homeodomain proteins
M T Corsetti, P Briata, L Sanseverino, et al.
Neuromuscular Disorders : NMD
|
January 1, 1992
Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy
G Siciliano, B Rossi, C Angelini, et al.
La Radiologia Medica
|
February 24, 2010
MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies
R Stramare, V Beltrame, R Dal Borgo, et al.
Neurology
|
October 1, 1996
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect
P P Koty, E Pegoraro, G Hobson, et al.
Minerva Pediatrica
|
August 31, 1986
[Natural history of muscular dystrophy inferred from a multicenter trial and the results of a dietetic trial]
C Angelini, G F Micaglio, C Trevisan, et al.
Japanese Heart Journal
|
January 1, 1993
Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect
C Angelini, P Melacini, M L Valente, et al.
Annals of Neurology
|
April 1, 1992
MELAS: clinical features, biochemistry, and molecular genetics
E Ciafaloni, E Ricci, S Shanske, et al.
Page
of 54
Search research articles
Search
Showing results (261-270 of 531) with videos related to
Sort By:
Page
of 54
Proceedings of the National Academy of Sciences of the United States of America
|
May 15, 1992
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
A Chomyn, A Martinuzzi, M Yoneda, et al.
Neuromuscular Disorders : NMD
|
September 27, 2012
Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes
K Kiiski, L Laari, V-L Lehtokari, et al.
Neurology
|
April 2, 1999
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population
F L Chou, C Angelini, D Daentl, et al.
Nucleic Acids Research
|
September 11, 1992
Differential DNA binding properties of three human homeodomain proteins
M T Corsetti, P Briata, L Sanseverino, et al.
Neuromuscular Disorders : NMD
|
January 1, 1992
Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy
G Siciliano, B Rossi, C Angelini, et al.
La Radiologia Medica
|
February 24, 2010
MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies
R Stramare, V Beltrame, R Dal Borgo, et al.
Neurology
|
October 1, 1996
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect
P P Koty, E Pegoraro, G Hobson, et al.
Minerva Pediatrica
|
August 31, 1986
[Natural history of muscular dystrophy inferred from a multicenter trial and the results of a dietetic trial]
C Angelini, G F Micaglio, C Trevisan, et al.
Japanese Heart Journal
|
January 1, 1993
Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect
C Angelini, P Melacini, M L Valente, et al.
Annals of Neurology
|
April 1, 1992
MELAS: clinical features, biochemistry, and molecular genetics
E Ciafaloni, E Ricci, S Shanske, et al.
Page
of 54