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  1. Article

    Open Access

    Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

    Pol III-related leukodystrophies, including 4H leukodystrophy, are recently recognized disorders that comprise hypomyelination and various neurologic and non-neurologic clinical manifestations. We report the u...

    Ana Potic, Vera Popovic, Jelena Ostojic, Sandra Pekic, Dusko Kozic… in BMC Neurology (2015)

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    Article

    A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

    We report a case of mild cavitating leukoencephalopathy associated with a homozygous c.755A > G (p.Asp252Gly) NDUFS1 mutation in a 7-year old boy. Biochemical analysis confirmed an isolated reduction in complex I...

    Alireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge… in neurogenetics (2014)