Concepedia

Promoter mutation is a common variant in GJC2-associated Pelizaeus–Merzbacher-like disease

Esther Meyer, Manju A. Kurian, Neil V. Morgan, A. McNeill, Shanaz Pasha, Louise Tee, R. Younis, Andrew Norman, Marjo S. van der Knaap, Evangeline Wassmer,

Molecular Genetics and Metabolism · 2011 · 20 citations · 19 references

DOI

Concepts

References

19

Connexins Are Critical for Normal Myelination in the CNS

Daniela M. Menichella, Daniel A. Goodenough, Erich E. Sirkowski et al. · Journal of Neuroscience · 2003 · 301 citations · Full text

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Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf et al. · The American Journal of Human Genetics · 2004 · 272 citations · Full text

, , +13

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

Daniella Magen, Costa Georgopoulos, Peter Bross et al. · The American Journal of Human Genetics · 2008 · 211 citations · Full text

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Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

Lynn D. Hudson, C Puckett, Jo Ann Berndt et al. · Proceedings of the National Academy of Sciences · 1989 · 203 citations · Full text

, , +17

Individual exons encode the integral membrane domains of human myelin proteolipid protein.

H J Diehl, Markus Schaich, Ralph-Michael BUDZINSKI et al. · Proceedings of the National Academy of Sciences · 1986 · 177 citations · Full text

, , +14