Evidence‐based consensus guidelines for ALS genetic testing and counseling.

Autor: Roggenbuck, Jennifer, Eubank, Breda H. F., Wright, Joshua, Harms, Matthew B., Kolb, Stephen J., Ajroud‐Driss, Senda, Arcila Londono, Ximena, Bauer, Gregory, Benatar, Michael, Bedlack, Richard, Brooks, Benjamin Rix, Chambers, Chelsea, Chehab, Farid F., Dratch, Laynie, Harrington, Elizabeth A., Elman, Lauren, Fernandes, Joseph Americo, Foster, Laura, Jackson, Carlayne E., Fong, Jamie C.

Publikováno v: Annals of Clinical & Translational Neurology; Nov2023, Vol. 10 Issue 11, p2074-2091, 18p

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.

Autor: Kurtz J; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA., Fernandes JA Jr; Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA., Mansukhani M; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA., Copeland WC; Mitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences (NIEHS), NIH, Research Triangle Park, NC 27709, USA., Naini AB; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA.; Department of Neurology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA.

Publikováno v: Case reports in genetics [Case Rep Genet] 2021 Nov 05; Vol. 2021, pp. 9969071. Date of Electronic Publication: 2021 Nov 05 (Print Publication: 2021).