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Raphael Schiffmann

Showing results (141-150 of 225) with videos related to

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Human Molecular Genetics|February 22, 2015
Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry miceJin-Song Shen, Xing-Li Meng, Mary Wight-Carter, et al.
Neurogenetics|January 18, 2006
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1Patricia Combes, Marie-Noelle Bonnet-Dupeyron, Fernande Gauthier-Barichard, et al.
Neuropediatrics|August 27, 2016
Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, et al.
Annals of Neurology|December 11, 2008
Randomized, controlled trial of miglustat in Gaucher's disease type 3Raphael Schiffmann, Edmond J Fitzgibbon, Chris Harris, et al.
AJNR. American Journal of Neuroradiology|October 10, 2002
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellumMarjo S van der Knaap, SakkuBai Naidu, Petra J W Pouwels, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 2, 2007
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approachDavid F Moore, Monique P Gelderman, Paulo A Ferreira, et al.
Journal of Child Neurology|September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological DescriptionGuy Helman, Angela N Viaene, Asako Takanohashi, et al.
The Journal of Biological Chemistry|March 23, 2019
Leukodystrophy-associated <i>POLR3A</i> mutations down-regulate the RNA polymerase III transcript and important regulatory RNA <i>BC200</i>Karine Choquet, Diane Forget, Elisabeth Meloche, et al.
Metabolic Brain Disease|May 8, 2021
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathologyAyelet Zerem, Liat Ben-Sira, Nitzan Vigdorovich, et al.
The American Journal of Cardiology|February 1, 2017
Urinary 11-Dehydro-Thromboxane B<sub>2</sub> and Mortality in Patients With Stable Coronary Artery DiseasePeter A McCullough, Anupama Vasudevan, Mohanakrishnan Sathyamoorthy, et al.
Pageof 23

Showing results (141-150 of 225) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|February 22, 2015
Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry miceJin-Song Shen, Xing-Li Meng, Mary Wight-Carter, et al.
Neurogenetics|January 18, 2006
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1Patricia Combes, Marie-Noelle Bonnet-Dupeyron, Fernande Gauthier-Barichard, et al.
Neuropediatrics|August 27, 2016
Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, et al.
Annals of Neurology|December 11, 2008
Randomized, controlled trial of miglustat in Gaucher's disease type 3Raphael Schiffmann, Edmond J Fitzgibbon, Chris Harris, et al.
AJNR. American Journal of Neuroradiology|October 10, 2002
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellumMarjo S van der Knaap, SakkuBai Naidu, Petra J W Pouwels, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 2, 2007
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approachDavid F Moore, Monique P Gelderman, Paulo A Ferreira, et al.
Journal of Child Neurology|September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological DescriptionGuy Helman, Angela N Viaene, Asako Takanohashi, et al.
The Journal of Biological Chemistry|March 23, 2019
Leukodystrophy-associated <i>POLR3A</i> mutations down-regulate the RNA polymerase III transcript and important regulatory RNA <i>BC200</i>Karine Choquet, Diane Forget, Elisabeth Meloche, et al.
Metabolic Brain Disease|May 8, 2021
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathologyAyelet Zerem, Liat Ben-Sira, Nitzan Vigdorovich, et al.
The American Journal of Cardiology|February 1, 2017
Urinary 11-Dehydro-Thromboxane B<sub>2</sub> and Mortality in Patients With Stable Coronary Artery DiseasePeter A McCullough, Anupama Vasudevan, Mohanakrishnan Sathyamoorthy, et al.
Pageof 23