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Dafsari, Hormos Salimi, Pemberton, Joshua G., Ferrer, Elizabeth A., Yammine, Tony, Farra, Chantal, Mohammadi, Mohammad Hasan, Karimiani, Ehsan Ghayoor, Hashemi, Narges, Souaid, Mirna ORCID: 0000-0001-8950-3170, Sabbagh, Sandra, Torbati, Paria Najarzadeh, Khan, Suliman ORCID: 0000-0002-0745-7834, Roze, Emmanuel, Moreno-De-Luca, Andres, Bertoli-Avella, Aida M., Houlden, Henry, Balla, Tamas and Maroofian, Reza (2022). PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy. Ann. Clin. Transl. Neurol., 9 (9). S. 1345 - 1359. HOBOKEN: WILEY. ISSN 2328-9503

Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert (2020). Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromusc. Disord., 30 (7). S. 583 - 590. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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