Literature DB >> 12796555

HNPP due to a novel missense mutation of the PMP22 gene.

Hiroyuki Nodera1, Masataka Nishimura, Eric L Logigian, David N Herrmann, Ryuji Kaji.   

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Year:  2003        PMID： 12796555     DOI： 10.1212/01.wnl.0000066049.13848.f2

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  4 in total

Review 1.  The PMP22 gene and its related diseases.

Authors:  Jun Li; Brett Parker; Colin Martyn; Chandramohan Natarajan; Jiasong Guo
Journal:  Mol Neurobiol       Date:  2012-12-07       Impact factor: 5.590

2.  A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Authors:  Kleopas A Kleopa; Domna-Maria Georgiou; Paschalis Nicolaou; Pantelitsa Koutsou; Eleftherios Papathanasiou; Theodoros Kyriakides; Kyproula Christodoulou
Journal:  Neurogenetics       Date:  2004-06-17       Impact factor: 2.660

3.  Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy.

Authors:  Sarah M Fantin; Kristine F Parson; Pramod Yadav; Brock Juliano; Geoffrey C Li; Charles R Sanders; Melanie D Ohi; Brandon T Ruotolo
Journal:  Proc Natl Acad Sci U S A       Date:  2021-04-27       Impact factor: 11.205

4.  Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies.

Authors:  Norihiko Kawaguchi; Naoki Suzuki; Maki Tateyama; Yoshiki Takai; Tatsuro Misu; Ichiro Nakashima; Yasuto Itoyama; Masashi Aoki
Journal:  Case Rep Neurol       Date:  2012-10-25
  4 in total

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