نتائج البحث

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.

• Authors : Kolarova, Hana; Tan, Jing; Strom, Tim M

Subjects: info:eu-repo/classification/ddc/610; Brain: pathology; Calcium-Binding ProteinsDE

• Source: EBioMedicine 77, 103869 (2022). doi:10.1016/j.ebiom.2022.103869

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Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

• Authors : Lepelley, Alice; Mina, Erika Della; Nieuwenhove, Erika Van

Subjects: ATPases Associated with Diverse Cellular Activities/genetics; Child; Preschool

• Source: Lepelley , A , Mina , E D , Nieuwenhove , E V , Waumans , L , Fraitag , S , Rice , G I , Dhir , A , Frémond , M-L , Rodero , M P , Seabra , L , Carter , E , Bodemer , C , Buhas , D , Callewaert , B ,

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LYRM7 Mutations Cause a Multifocal Cavitating Leukoencephalopathy with Distinct MRI Appearance

• Authors : Dallabona, C; Abbink, TEM; Carrozzo, R

Subjects: Adolescent; Amino Acid Sequence; Child

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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

• Authors : Royer-Bertrand, B.; Castillo-Taucher, S.; Moreno-Salinas, R.

Subjects: Abnormalities; Multiple/genetics; Multiple/radiography

• Source: Scientific Reports, vol. 5, pp. 17154

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