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R Schiffmann

Showing results (81-90 of 89) with videos related to

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Neurology|March 1, 2006
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cordM S van der Knaap, V Ramesh, R Schiffmann, et al.
Neurology|August 17, 2002
The neurogenetics of mucolipidosis type IVG Altarescu, M Sun, D F Moore, et al.
Annals of Human Genetics|January 31, 2006
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophiesC Vaurs-Barriere, M-N Bonnet-Dupeyron, P Combes, et al.
Genomics|April 25, 2001
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2J S Acierno, J C Kennedy, J L Falardeau, et al.
Human Gene Therapy|December 16, 1998
Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablationC E Dunbar, D B Kohn, R Schiffmann, et al.
Brain : a Journal of Neurology|January 21, 2009
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)F Mochel, F Sedel, A Vanderver, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 5, 2000
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry diseaseR Schiffmann, G J Murray, D Treco, et al.
Neurology|September 16, 2011
GFAP mutations, age at onset, and clinical subtypes in Alexander diseaseM Prust, J Wang, H Morizono, et al.
Molecular Genetics and Metabolism|March 1, 2021
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensusD Moreno-Martinez, P Aguiar, C Auray-Blais, et al.
Pageof 9

Showing results (81-90 of 89) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 89 results.
Neurology|March 1, 2006
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cordM S van der Knaap, V Ramesh, R Schiffmann, et al.
Neurology|August 17, 2002
The neurogenetics of mucolipidosis type IVG Altarescu, M Sun, D F Moore, et al.
Annals of Human Genetics|January 31, 2006
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophiesC Vaurs-Barriere, M-N Bonnet-Dupeyron, P Combes, et al.
Genomics|April 25, 2001
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2J S Acierno, J C Kennedy, J L Falardeau, et al.
Human Gene Therapy|December 16, 1998
Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablationC E Dunbar, D B Kohn, R Schiffmann, et al.
Brain : a Journal of Neurology|January 21, 2009
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)F Mochel, F Sedel, A Vanderver, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 5, 2000
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry diseaseR Schiffmann, G J Murray, D Treco, et al.
Neurology|September 16, 2011
GFAP mutations, age at onset, and clinical subtypes in Alexander diseaseM Prust, J Wang, H Morizono, et al.
Molecular Genetics and Metabolism|March 1, 2021
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensusD Moreno-Martinez, P Aguiar, C Auray-Blais, et al.
Pageof 9