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Page 1
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Brain. 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. Brain. 2024. PMID: 38527963 Free PMC article.
Genetic defects are common in myopathies with tubular aggregates.
Gang Q, Bettencourt C, Brady S, Holton JL, Healy EG, McConville J, Morrison PJ, Ripolone M, Violano R, Sciacco M, Moggio M, Mora M, Mantegazza R, Zanotti S, Wang Z, Yuan Y, Liu WW, Beeson D, Hanna M, Houlden H. Gang Q, et al. Ann Clin Transl Neurol. 2022 Jan;9(1):4-15. doi: 10.1002/acn3.51477. Epub 2021 Dec 15. Ann Clin Transl Neurol. 2022. PMID: 34908252 Free PMC article.