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M Deschauer

Showing results (21-30 of 37) with videos related to

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Neurology|February 16, 2006
Pure myopathy associated with a novel mitochondrial tRNA gene mutationH Swalwell, M Deschauer, H Hartl, et al.
Journal of Inherited Metabolic Disease|July 9, 2008
Molecular diagnosis of German patients with late-onset glycogen storage disease type IIP R Joshi, D Gläser, S Schmidt, et al.
Clinical Neuroradiology|January 11, 2019
Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic ManifestationsD M Hedderich, N Lummel, M Deschauer, et al.
Clinical Neuropathology|August 19, 2007
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patientsF Hanisch, C R Müller, D Grimm, et al.
Molecular Genetics and Metabolism|March 3, 2006
Molecular and biochemical investigations in fumarase deficiencyM Deschauer, Z Gizatullina, A Schulze, et al.
Journal of Neurology|June 21, 2006
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonanceC Gaul, M Deschauer, C Tempelmann, et al.
Der Nervenarzt|November 23, 2013
[Diagnosis and therapy of late onset Pompe disease]A Schüller, C Kornblum, M Deschauer, et al.
Neuromuscular Disorders : NMD|October 20, 2009
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutationsU Schara, N Barisic, M Deschauer, et al.
Journal of Neurology|April 4, 2007
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutationsM Deschauer, A Morgenroth, P R Joshi, et al.
Clinical Genetics|September 24, 2017
Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegenerationS K Bublitz, B Alhaddad, M Synofzik, et al.
Pageof 4

Showing results (21-30 of 37) with videos related to

Sort By:
Pageof 4
Neurology|February 16, 2006
Pure myopathy associated with a novel mitochondrial tRNA gene mutationH Swalwell, M Deschauer, H Hartl, et al.
Journal of Inherited Metabolic Disease|July 9, 2008
Molecular diagnosis of German patients with late-onset glycogen storage disease type IIP R Joshi, D Gläser, S Schmidt, et al.
Clinical Neuroradiology|January 11, 2019
Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic ManifestationsD M Hedderich, N Lummel, M Deschauer, et al.
Clinical Neuropathology|August 19, 2007
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patientsF Hanisch, C R Müller, D Grimm, et al.
Molecular Genetics and Metabolism|March 3, 2006
Molecular and biochemical investigations in fumarase deficiencyM Deschauer, Z Gizatullina, A Schulze, et al.
Journal of Neurology|June 21, 2006
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonanceC Gaul, M Deschauer, C Tempelmann, et al.
Der Nervenarzt|November 23, 2013
[Diagnosis and therapy of late onset Pompe disease]A Schüller, C Kornblum, M Deschauer, et al.
Neuromuscular Disorders : NMD|October 20, 2009
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutationsU Schara, N Barisic, M Deschauer, et al.
Journal of Neurology|April 4, 2007
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutationsM Deschauer, A Morgenroth, P R Joshi, et al.
Clinical Genetics|September 24, 2017
Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegenerationS K Bublitz, B Alhaddad, M Synofzik, et al.
Pageof 4