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Karen M Krajewski

Showing results (1-10 of 8) with videos related to

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Neurologic Clinics|June 23, 2004
Genetic testing in neuromuscular diseaseKaren M Krajewski, Michael E Shy
Archives of Neurology|July 11, 2007
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsiesJun Li, Khaled Ghandour, Danijela Radovanovic, et al.
Journal of Genetic Counseling|April 23, 2013
A review of genetic counseling for Charcot Marie Tooth disease (CMT)Carly E Siskind, Seema Panchal, Corrine O Smith, et al.
The Journal of Comparative Neurology|July 21, 2006
Major myelin protein gene (P0) mutation causes a novel form of axonal degenerationJun Li, Yunhong Bai, Emilia Ianakova, et al.
Annals of Neurology|September 27, 2002
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseaseHenry L Paulson, James Y Garbern, Timothy F Hoban, et al.
Annals of Neurology|January 27, 2006
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathyMichael E Shy, Mena T Scavina, Alisa Clark, et al.
American Journal of Human Genetics|August 19, 2007
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)Hee-Jin Kim, Kwang-Min Sohn, Michael E Shy, et al.
Annals of Neurology|January 27, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Stephan Züchner, Peter De Jonghe, Albena Jordanova, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Neurologic Clinics|June 23, 2004
Genetic testing in neuromuscular diseaseKaren M Krajewski, Michael E Shy
Archives of Neurology|July 11, 2007
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsiesJun Li, Khaled Ghandour, Danijela Radovanovic, et al.
Journal of Genetic Counseling|April 23, 2013
A review of genetic counseling for Charcot Marie Tooth disease (CMT)Carly E Siskind, Seema Panchal, Corrine O Smith, et al.
The Journal of Comparative Neurology|July 21, 2006
Major myelin protein gene (P0) mutation causes a novel form of axonal degenerationJun Li, Yunhong Bai, Emilia Ianakova, et al.
Annals of Neurology|September 27, 2002
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseaseHenry L Paulson, James Y Garbern, Timothy F Hoban, et al.
Annals of Neurology|January 27, 2006
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathyMichael E Shy, Mena T Scavina, Alisa Clark, et al.
American Journal of Human Genetics|August 19, 2007
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)Hee-Jin Kim, Kwang-Min Sohn, Michael E Shy, et al.
Annals of Neurology|January 27, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Stephan Züchner, Peter De Jonghe, Albena Jordanova, et al.
Pageof 1