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H H Goebel

Showing results (311-320 of 323) with videos related to

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Neuromuscular Disorders : NMD|July 16, 2002
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian populationM Gross, E Rötzer, P Kölle, et al.
Neurology|June 20, 1998
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia onlyJ K Mellies, T Bäumer, J A Müller, et al.
Neurology|March 26, 2003
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathyS Rudnik-Schöneborn, H H Goebel, W Schlote, et al.
European Journal of Cell Biology|June 1, 1999
Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscleR Schröder, I Warlo, H Herrmann, et al.
Neurology|February 9, 2005
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated casesN G Laing, C Ceuterick-de Groote, D E Dye, et al.
Journal of Medical Genetics|November 3, 2004
Missense mutations of ACTA1 cause dominant congenital myopathy with coresA M Kaindl, F Rüschendorf, S Krause, et al.
Neurology|February 17, 2010
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCLW Xin, T E Mullen, R Kiely, et al.
Neurology|December 29, 2005
A mutation in myotilin causes spheroid body myopathyT Foroud, N Pankratz, A P Batchman, et al.
Molecular Genetics and Metabolism|December 28, 2016
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dogM Hirz, M Drögemüller, A Schänzer, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 10, 1996
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophyB Hess, P Saftig, D Hartmann, et al.
Pageof 33

Showing results (311-320 of 323) with videos related to

Sort By:
Pageof 33
Neuromuscular Disorders : NMD|July 16, 2002
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian populationM Gross, E Rötzer, P Kölle, et al.
Neurology|June 20, 1998
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia onlyJ K Mellies, T Bäumer, J A Müller, et al.
Neurology|March 26, 2003
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathyS Rudnik-Schöneborn, H H Goebel, W Schlote, et al.
European Journal of Cell Biology|June 1, 1999
Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscleR Schröder, I Warlo, H Herrmann, et al.
Neurology|February 9, 2005
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated casesN G Laing, C Ceuterick-de Groote, D E Dye, et al.
Journal of Medical Genetics|November 3, 2004
Missense mutations of ACTA1 cause dominant congenital myopathy with coresA M Kaindl, F Rüschendorf, S Krause, et al.
Neurology|February 17, 2010
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCLW Xin, T E Mullen, R Kiely, et al.
Neurology|December 29, 2005
A mutation in myotilin causes spheroid body myopathyT Foroud, N Pankratz, A P Batchman, et al.
Molecular Genetics and Metabolism|December 28, 2016
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dogM Hirz, M Drögemüller, A Schänzer, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 10, 1996
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophyB Hess, P Saftig, D Hartmann, et al.
Pageof 33