PMC Articles for MedGen (Select 864072) - PMC

Select item 93140551.

Paola Saveri, Stefania Magri, Emanuela Maderna, Francesca Balistreri, Raffaella Lombardi, Claudia Ciano, Fabio Moda, Barbara Garavaglia, Chiara Reale, Giuseppe Lauria Pinter, Franco Taroni, Davide Pareyson, Chiara Pisciotta

Eur J Neurol. 2022 Jul; 29(7): 2056–2065. Published online 2022 Mar 23. doi: 10.1111/ene.15326

PMCID:: PMC9314055

Article PDF–5.0M

Select item 58395542.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320

PMCID:: PMC5839554

Article PDF–1.4M

Select item 55929643.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

Giuseppe Piscosquito, Paola Saveri, Stefania Magri, Claudia Ciano, Claudia Gandioli, Michela Morbin, Daniela D. Bella, Isabella Moroni, Franco Taroni F, Davide Pareyson

J Peripher Nerv Syst. Author manuscript; available in PMC 2017 Sep 11.

Published in final edited form as: J Peripher Nerv Syst. 2016 Sep; 21(3): 142–149. doi: 10.1111/jns.12175

PMCID:: PMC5592964

Article PDF–95K

Select item 50696004.

Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

Yujiro Higuchi, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Satoshi Ishihara, Hajime Tanabe, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Ryuichi Ohkubo, Saeko Inamizu, Wataru Shiraishi, Ryo Yamasaki, Yasumasa Ohyagi, Jun‐ichi Kira, Yasushi Oya, Hayato Yabe, Noriko Nishikawa, Shinsuke Tobisawa, Nozomu Matsuda, Masayuki Masuda, Chiharu Kugimoto, Kazuhiro Fukushima, Satoshi Yano, Jun Yoshimura, Koichiro Doi, Masanori Nakagawa, Shinichi Morishita, Shoji Tsuji, Hiroshi Takashima

Ann Neurol. 2016 Apr; 79(4): 659–672. Published online 2016 Mar 17. doi: 10.1002/ana.24612

PMCID:: PMC5069600

Article PDF–808K

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