Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy - Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo (The American journal of human genetics, 2018)
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