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Reticulon 2 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. Among authors: khundadze m. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Krumm L, et al. Among authors: khundadze m. Acta Neuropathol. 2024 Feb 2;147(1):28. doi: 10.1007/s00401-023-02675-w. Acta Neuropathol. 2024. PMID: 38305941 Free PMC article.
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang ZL, Higginbottom A, Khundadze M, Shaw PJ, Hübner CA, Livesey MR, Azzouz M. Marrone L, et al. Among authors: khundadze m. Hum Mol Genet. 2022 Aug 23;31(16):2693-2710. doi: 10.1093/hmg/ddac063. Hum Mol Genet. 2022. PMID: 35313342 Free PMC article.
20 results