Publications:

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Molecular Genetics & Genomic Medicine

Slynko, Inna I; Nguyen, Stephanie S; Hamilton, Eline M C EMC; Wisse, Lisanne E LE; de Esch, Iwan J P IJP; de Graaf, Chris C; Bruning, John B JB; Proud, Christopher G CG; Abbink, Truus E M TEM; van der Knaap, Marjo S MS

Publication Date: 2021-03

Variant appearance in text: F2: 956A>G

PubMed Link: 33432707

Variant Present in the following documents:

• MGG3-9-e1593-s001.pdf

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Brain : A Journal Of Neurology

Rattay, Tim W TW; Lindig, Tobias T; Baets, Jonathan J; Smets, Katrien K; Deconinck, Tine T; Söhn, Anne S AS; Hörtnagel, Konstanze K; Eckstein, Kathrin N KN; Wiethoff, Sarah S; Reichbauer, Jennifer J; Döbler-Neumann, Marion M; Krägeloh-Mann, Ingeborg I; Auer-Grumbach, Michaela M; Plecko, Barbara B; Münchau, Alexander A; Wilken, Bernd B; Janauschek, Marc M; Giese, Anne-Katrin AK; De Bleecker, Jan L JL; Ortibus, Els E; Debyser, Martine M; Lopez de Munain, Adolfo A; Pujol, Aurora A; Bassi, Maria Teresa MT; D'Angelo, Maria Grazia MG; De Jonghe, Peter P; Züchner, Stephan S; Bauer, Peter P; Schöls, Ludger L; Schüle, Rebecca R

Publication Date: 2019-06-01

Variant appearance in text: F2: 956A>G

PubMed Link: 31135052

Variant Present in the following documents:

• Main text

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