Thr124Met myelin protein zero mutation mimicking motor neuron disease

2021 ◽  
pp. 1-6
Author(s):  
Giulia Bisogni ◽  
Angela Romano ◽  
Amelia Conte ◽  
Giorgio Tasca ◽  
Daniela Bernardo ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Protein Zero

Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease

2012 ◽  
Vol 71 (1) ◽  
pp. 84-92 ◽  
Author(s):  
Meiko Hashimoto Maeda ◽  
Jun Mitsui ◽  
Bing-Wen Soong ◽  
Yuji Takahashi ◽  
Hiroyuki Ishiura ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Zero ◽  
Tooth Disease

scholarly journals Gain of glycosylation: A new pathomechanism of myelin protein zero mutations

2012 ◽  
Vol 71 (3) ◽  
pp. 427-431 ◽  
Author(s):  
Valeria Prada ◽  
Mario Passalacqua ◽  
Maria Bono ◽  
Paola Luzzi ◽  
Sara Scazzola ◽  
...  
Keyword(s):  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Protein Zero

A NOVEL MYELIN PROTEIN ZERO MUTATION ASSOCIATED WITH CHARCOT-MARIE-TOOTH TYPE II DISEASE

2002 ◽  
Vol 7 (1) ◽  
pp. 72-73
Author(s):  
D Cassandrini ◽  
P Balestra ◽  
F Manganelli ◽  
L Santoro ◽  
F Ajmar ◽  
...  
Keyword(s):  
Myelin Protein ◽  
Type Ii ◽  
Myelin Protein Zero ◽  
Charcot Marie Tooth ◽  
Tooth Type ◽  
Protein Zero

Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations

2010 ◽  
Vol 52 (2) ◽  
pp. 177-183 ◽  
Author(s):  
Hanna Drac ◽  
Dagmara Kabzińska ◽  
Izabela Moszyńska ◽  
Halina Strugalska-Cynowska ◽  
Irena Hausmanowa-Petrusewicz ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Zero ◽  
Tooth Disease

scholarly journals MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

2018 ◽  
Vol 103 (1) ◽  
pp. 74-88 ◽  
Author(s):  
Mieke Wesdorp ◽  
Silvia Murillo-Cuesta ◽  
Theo Peters ◽  
Adelaida M. Celaya ◽  
Anne Oonk ◽  
...  
Keyword(s):  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Junctional Protein ◽  
Protein Zero

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

2019 ◽  
Vol 266 (11) ◽  
pp. 2629-2645 ◽  
Author(s):  
Ilaria Callegari ◽  
C. Gemelli ◽  
A. Geroldi ◽  
F. Veneri ◽  
P. Mandich ◽  
...  
Keyword(s):  
Late Onset ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Protein Zero

J - 25 Neuropathie par hypersensibilité à la pression (HNPP) liée à une mutation non sens du gène de la myelin protein zero (MPZ)

2007 ◽  
Vol 163 (4) ◽  
pp. 100
Author(s):  
A. Magot ◽  
P. Latour ◽  
J.-M. Mussini ◽  
R. Mourtada ◽  
P. Guihéneuc ◽  
...  
Keyword(s):  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Protein Zero

Congenital Hypomyelinating Neuropathy Attributable to a De Novo p.Asp61Asn Mutation of the Myelin Protein Zero Gene

2013 ◽  
Vol 48 (1) ◽  
pp. 59-62 ◽  
Author(s):  
Takahiro Yonekawa ◽  
Hirofumi Komaki ◽  
Yuko Saito ◽  
Hiroshi Takashima ◽  
Masayuki Sasaki
Keyword(s):  
De Novo ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Protein Zero ◽  
Congenital Hypomyelinating Neuropathy
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