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Neuromuscular Disorders : NMD
|
July 17, 1999
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness
M Deschauer, T Wieser, S Neudecker, et al.
Der Nervenarzt
|
December 25, 2012
[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement]
T Kraya, W Kress, D Stoevesant, et al.
Molecular Genetics and Metabolism
|
August 5, 2000
Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss
M Deschauer, S Neudecker, T Müller, et al.
Neurology
|
January 26, 2005
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism
G Hudson, M Deschauer, K Busse, et al.
JIMD Reports
|
January 24, 2015
Morphology and function of cerebral arteries in adults with pompe disease
Ole Hensel, F Hanisch, K Stock, et al.
Archives of Neurology
|
November 16, 2001
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation
M Deschauer, T Müller, T Wieser, et al.
Der Nervenarzt
|
July 9, 2011
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]
M Deschauer, P R Joshi, D Gläser, et al.
Journal of Neurology
|
May 16, 2012
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
M Deschauer, C Gaul, C Behrmann, et al.
Neurology
|
April 23, 2003
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA
M Deschauer, C Bamberg, D Claus, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
May 23, 2000
[Bilateral inferior hemianopsia as an early symptom of Heidenhain type Creutzfeldt-Jakob disease]
M Deschauer, M Stephan, U Stuhlträger, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 37) with videos related to
Sort By:
Page
of 4
Neuromuscular Disorders : NMD
|
July 17, 1999
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness
M Deschauer, T Wieser, S Neudecker, et al.
Der Nervenarzt
|
December 25, 2012
[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement]
T Kraya, W Kress, D Stoevesant, et al.
Molecular Genetics and Metabolism
|
August 5, 2000
Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss
M Deschauer, S Neudecker, T Müller, et al.
Neurology
|
January 26, 2005
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism
G Hudson, M Deschauer, K Busse, et al.
JIMD Reports
|
January 24, 2015
Morphology and function of cerebral arteries in adults with pompe disease
Ole Hensel, F Hanisch, K Stock, et al.
Archives of Neurology
|
November 16, 2001
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation
M Deschauer, T Müller, T Wieser, et al.
Der Nervenarzt
|
July 9, 2011
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]
M Deschauer, P R Joshi, D Gläser, et al.
Journal of Neurology
|
May 16, 2012
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
M Deschauer, C Gaul, C Behrmann, et al.
Neurology
|
April 23, 2003
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA
M Deschauer, C Bamberg, D Claus, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
May 23, 2000
[Bilateral inferior hemianopsia as an early symptom of Heidenhain type Creutzfeldt-Jakob disease]
M Deschauer, M Stephan, U Stuhlträger, et al.
Page
of 4