PMC Links for OMIM (Select 145900) - PMC - NCBI

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Items: 3

Select item 31705331.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Jonathan Baets, Tine Deconinck, Els De Vriendt, Magdalena Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yesim Parman, Berten Ceulemans, Patrick Van Bogaert, Adolf Pou-Serradell, Günther Bernert, Argirios Dinopoulos, Michaela Auer-Grumbach, Satu-Leena Sallinen, Gian Maria Fabrizi, Fernand Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloglu, Ricardo E. Madrid, Dagmara Kabzińska, Andrzej Kochanski, Haluk Topaloglu, Geoffrey Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

Brain. 2011 Sep; 134(9): 2664–2676. Published online 2011 Aug 11. doi: 10.1093/brain/awr184

PMCID:: PMC3170533

Abstract Article PDF–353K

Select item 12352662.

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

Cornelius F. Boerkoel, Hiroshi Takashima, Pawel Stankiewicz, Carlos A. Garcia, Steven M. Leber, Laila Rhee-Morris, James R. Lupski

Am J Hum Genet. 2001 Feb; 68(2): 325–333. Published online 2000 Dec 15. doi: 10.1086/318208

Correction in:: Am J Hum Genet. 2001 Feb; 68(2): 557.

PMCID:: PMC1235266

Abstract Article PDF–1.2M

Select item 4971803.

A FAMILY WITH THE PROGRESSIVE HYPERTROPHIC POLYNEURITIS OF DEJERINE AND SOTTAS

P. D. Bedford, F. E. James

J Neurol Neurosurg Psychiatry. 1956 Feb; 19(1): 46–51. doi: 10.1136/jnnp.19.1.46

PMCID:: PMC497180

Summary Page Browse PDF–971K

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