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1. link.springer.com › article › 10Exome sequencing in four families with neurodevelopmental ... -...

   link.springer.com › article › 10

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   5 ore fa · Pérez-Brangulí F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, Dorca-Arevalo J, Regensburger M, Graef D, Sock E, Blasi J, Groemer TW, Schlötzer-Schrehardt U, Winkler J, Winner B (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Human Mole Genet 23(18):4859–4874.

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