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R Schiffmann

Showing results (71-80 of 89) with videos related to

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Neurology|July 11, 2007
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathologyM S van der Knaap, T Linnankivi, A Paetau, et al.
Neurology|December 13, 2006
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontiaM Timmons, M Tsokos, M Abu Asab, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 14, 1998
Constitutive achlorhydria in mucolipidosis type IVR Schiffmann, N K Dwyer, I A Lubensky, et al.
Acta Neuropathologica|November 15, 2000
Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndromeK Wong, R C Armstrong, K A Gyure, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 26, 1999
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease miceT Ohshima, R Schiffmann, G J Murray, et al.
Annals of Neurology|October 24, 1997
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's diseaseR Schiffmann, M P Heyes, J M Aerts, et al.
Human Molecular Genetics|October 13, 2000
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channelM Sun, E Goldin, S Stahl, et al.
Neurology|January 27, 2010
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesF Mochel, U F H Engelke, J Barritault, et al.
Neurology|May 12, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophiesA Fogli, R Schiffmann, E Bertini, et al.
Neuropediatrics|March 6, 2004
Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactateS V Serkov, I N Pronin, O V Bykova, et al.
Pageof 9

Showing results (71-80 of 89) with videos related to

Sort By:
Pageof 9
Neurology|July 11, 2007
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathologyM S van der Knaap, T Linnankivi, A Paetau, et al.
Neurology|December 13, 2006
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontiaM Timmons, M Tsokos, M Abu Asab, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 14, 1998
Constitutive achlorhydria in mucolipidosis type IVR Schiffmann, N K Dwyer, I A Lubensky, et al.
Acta Neuropathologica|November 15, 2000
Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndromeK Wong, R C Armstrong, K A Gyure, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 26, 1999
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease miceT Ohshima, R Schiffmann, G J Murray, et al.
Annals of Neurology|October 24, 1997
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's diseaseR Schiffmann, M P Heyes, J M Aerts, et al.
Human Molecular Genetics|October 13, 2000
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channelM Sun, E Goldin, S Stahl, et al.
Neurology|January 27, 2010
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesF Mochel, U F H Engelke, J Barritault, et al.
Neurology|May 12, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophiesA Fogli, R Schiffmann, E Bertini, et al.
Neuropediatrics|March 6, 2004
Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactateS V Serkov, I N Pronin, O V Bykova, et al.
Pageof 9