Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc)
Author:
Funder
Zanjan University of Medical Sciences
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00438-024-02111-y.pdf
Reference32 articles.
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2. Connolly BS, Hazrati LN, Lang AE (2014) Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures. Acta Neuropathol 127(4):613–615. https://doi.org/10.1007/s00401-013-1241-3
3. Critchley EM, Clark DB, Wikler A (1967) an adult form of acanthocytosis. Trans Am Neurol Assoc 92:132–137. https://doi.org/10.1001/archneur.1968.00470320036004
4. Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP (2004) Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol 56(2):299–302. https://doi.org/10.1002/ana.20200
5. Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J (2016) Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up. Clin Neurol Neurosurg 147:78–83. https://doi.org/10.1016/j.clineuro.2016.05.028
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