H H Goebel|J D Sharp - JoVE Visualize

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Acta Neuropathologica|January 1, 1987

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorderA Bardosi, W Creutzfeldt, S DiMauro, et al.

American Journal of Medical Genetics|October 27, 1998

Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndromeG Göhlich-Ratmann, M Baethmann, P Lorenz, et al.

Molecular Genetics and Metabolism|April 7, 1999

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23J D Sharp, R B Wheeler, B D Lake, et al.

Deutsche Medizinische Wochenschrift (1946)|May 29, 1981

[Myoglobinuric renal failure in hyperosmolar diabetic coma (author's transl)]K W Rumpf, H Kaiser, H J Gröne, et al.

Journal of the Neurological Sciences|January 1, 1997

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblingsE Hund, A Grau, W Fogel, et al.

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.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2001

Analysis of candidate genes in the CLN6 critical region using in silico cloningJ D Sharp, R B Wheeler, R A Schultz, et al.

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Showing results (251-260 of 282) with videos related to

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Pageof 29

Acta Neuropathologica|January 1, 1987

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorderA Bardosi, W Creutzfeldt, S DiMauro, et al.

American Journal of Medical Genetics|October 27, 1998

Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndromeG Göhlich-Ratmann, M Baethmann, P Lorenz, et al.

Molecular Genetics and Metabolism|April 7, 1999

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23J D Sharp, R B Wheeler, B D Lake, et al.

Deutsche Medizinische Wochenschrift (1946)|May 29, 1981

[Myoglobinuric renal failure in hyperosmolar diabetic coma (author's transl)]K W Rumpf, H Kaiser, H J Gröne, et al.

Journal of the Neurological Sciences|January 1, 1997

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblingsE Hund, A Grau, W Fogel, et al.

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.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2001

Analysis of candidate genes in the CLN6 critical region using in silico cloningJ D Sharp, R B Wheeler, R A Schultz, et al.

Pageof 29