PMC Articles for MedGen (Select 343184) - PMC

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Items: 3

Select item 16985581.

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Shareef Khateeb, Hagit Flusser, Rivka Ofir, Ilan Shelef, Ginat Narkis, Gideon Vardi, Zamir Shorer, Rachel Levy, Aharon Galil, Khalil Elbedour, Ohad S. Birk

Am J Hum Genet. 2006 Nov; 79(5): 942–948. Published online 2006 Sep 19. doi: 10.1086/508572

PMCID:: PMC1698558

Article PDF–2.4M

Select item 67496722.

Comparison of cognitive profiles in spinocerebellar ataxia subtypes: a case series

Corey Bolton, Maureen Lacy

Cerebellum Ataxias. 2019; 6: 13. Published online 2019 Sep 18. doi: 10.1186/s40673-019-0107-4

PMCID:: PMC6749672

Article PDF–540K

Select item 48535203.

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

Mugdha Joshi, Irina Anselm, Jiahai Shi, Tejus A. Bale, Meghan Towne, Klaus Schmitz-Abe, Laura Crowley, Felix C. Giani, Shideh Kazerounian, Kyriacos Markianos, Hart G. Lidov, Rebecca Folkerth, Vijay G. Sankaran, Pankaj B. Agrawal

Cold Spring Harb Mol Case Stud. 2016 May; 2(3): a000786. doi: 10.1101/mcs.a000786