Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2-Reference-Cited by-同舟云学术

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

Published:2016-03-17 Issue:4 Volume:79 Page:659-672
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Higuchi Yujiro¹,Hashiguchi Akihiro¹,Yuan Junhui¹,Yoshimura Akiko¹,Mitsui Jun²,Ishiura Hiroyuki²,Tanaka Masaki²,Ishihara Satoshi¹³,Tanabe Hajime¹,Nozuma Satoshi¹,Okamoto Yuji¹,Matsuura Eiji¹,Ohkubo Ryuichi¹⁴,Inamizu Saeko⁵,Shiraishi Wataru⁵,Yamasaki Ryo⁵,Ohyagi Yasumasa⁵,Kira Jun‐ichi⁵,Oya Yasushi⁶,Yabe Hayato⁷,Nishikawa Noriko⁷,Tobisawa Shinsuke⁸,Matsuda Nozomu⁹,Masuda Masayuki¹⁰,Kugimoto Chiharu¹¹,Fukushima Kazuhiro¹²,Yano Satoshi¹³,Yoshimura Jun¹⁴,Doi Koichiro¹⁴,Nakagawa Masanori¹⁵,Morishita Shinichi¹⁴,Tsuji Shoji²,Takashima Hiroshi¹

Affiliation:

1. Department of Neurology and GeriatricsKagoshima University Graduate School of Medical and Dental SciencesKagoshima Japan

2. Department of Neurology, Graduate School of MedicineThe University of TokyoTokyo Japan

3. Department of Cardiovascular medicine, Nephrology and Neurology, Graduate School of MedicineUniversity of the RyukyusOkinawa Japan

4. Department of NeurologyFujimoto General HospitalMiyazaki Japan

5. Department of Neurology, Neurological Institute, Graduate School of Medical SciencesKyushu UniversityFukuoka Japan

6. Department of Neurology, National Center HospitalNational Center of Neurology and PsychiatryTokyo Japan

7. Department of Neurology and Clinical PharmacologyEhime University Graduate School of MedicineEhime Japan

8. Department of NeurologyTokyo Metropolitan Neurological HospitalTokyo Japan

9. Department of NeurologyFukushima Medical UniversityFukushima Japan

10. Department of NeurologyTokyo Medical UniversityTokyo Japan

11. Department of Neurology and Stroke MedicineYokohama City UniversityYokohama Japan

12. Department of Home‐Care PromotionShinshu University School of MedicineMatsumoto Japan

13. Department of NeurologyShowa University School of MedicineTokyo Japan

14. Department of Computational Biology and Medical Sciences, Graduate School of Frontier SciencesThe University of TokyoChiba Japan

15. Director of North Medical CenterKyoto Prefectural University of MedicineKyoto Japan

Funder

Nervous and Mental Disorders and Research Committee for Charcot-Marie-Tooth Disease, Neuropathy, Ataxic Disease and Applying Health and Technology of Ministry of Health, Welfare and Labour, Japan

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.24612

Reference54 articles.

1. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes

2. Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance

3. Charcot-marie-tooth disease subtypes and genetic testing strategies

4. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

5. 4th Workshop of the European CMT-Consortium – 62nd ENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders. 16–18 October 1998, Soestduinen, The Netherlands

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