CMT2A: recent interesting scientific studies published on Pubmed

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We would like to bring some scientific studies about CMT2A we recently found on Pubmed to your attention. We divided them by country as we usually do on our website, in the section Resources, where you can find a large literature about Charcot-Marie-Tooth type 2A. 

  • UK

Severe cognitive impairment in a patient with CMT2A.

Tomaselli PJ, Kapoor M, Cortese A, Polke JM, Rossor AM, Reilly MM.

  • ITALY

Severe cognitive impairment in a patient with CMT2A.

Tomaselli PJ, Kapoor M, Cortese A, Polke JM, Rossor AM, Reilly MM.

  • USA

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa L, Richardson J, Motley WW, Züchner S, Scherer SS.

Characterization of Charcot-Marie-Tooth optic neuropathy.

Botsford B, Vuong LN, Hedges TR III, Mendoza-Santiesteban CE.

  • JAPAN

Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.

Hikiami R, Yamashita H, Koita N, Jingami N, Sawamoto N, Furukawa K, Kawai H, Terashima T, Oka N, Hashiguchi A, Takashima H, Urushitani M, Takahashi R.

  • SAUDI ARABIA

Mitochondrial Dynamics and Proteins Related to Neurodegenerative Diseases.

Alexiou A, Nizami B, Khan FI, Soursou G, Vairaktarakis C, Chatzichronis S, Tsiamis V, Manztavinos V, Yarla NS, Md Ashraf G.

We invite you to enjoy reading and to suggest or share with us any interesting studies that you have found!

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