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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.
Acta Neuropathologica|June 30, 2009
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1Anders A F Sima, Christopher R Pierson, Randall L Woltjer, et al.
Annals of the New York Academy of Sciences|November 1, 2017
Peripheral Neuropathy Caused by Proteolipid Protein Gene MutationsJames Y Garbern, Franca Cambi, Richard Lewis, et al.
Plos Genetics|March 10, 2015
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplicationChristine R Beck, Claudia M B Carvalho, Linda Banser, et al.
Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.
Brain : a Journal of Neurology|February 4, 2005
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher diseaseNicole I Wolf, Erik A Sistermans, Maria Cundall, et al.
American Journal of Human Genetics|December 29, 2005
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombinationKaren J Woodward, Maria Cundall, Karen Sperle, et al.
Brain : a Journal of Neurology|March 2, 2002
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammationJames Y Garbern, Donald A Yool, Gregory J Moore, et al.
American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
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