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Neurology. Genetics|July 20, 2023
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular AtrophyGorka Fernández-Eulate, Julian Theuriet, Christopher J Record, et al.Neurology. Genetics|July 10, 2023
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELASVadim Khasminsky, Eitan Auriel, Judith Luckman, et al.Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.Neurology. Genetics|February 12, 2020
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALSMaria-Del-Mar Amador, François Muratet, Elisa Teyssou, et al.Neurology. Genetics|February 12, 2020
HSAN-VI: A spectrum disorder based on dystonin isoform expressionAnisha Lynch-Godrei, Rashmi KotharyNeurology. Genetics|February 12, 2020
Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohortJennifer Roggenbuck, Marilly Palettas, Leah Vicini, et al.Neurology. Genetics|February 12, 2020
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEOCarola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, et al.Neurology. Genetics|November 23, 2020
Disease duration in autosomal dominant familial Alzheimer disease: A survival analysisIvanna M Pavisic, Jennifer M Nicholas, Antoinette O'Connor, et al.Neurology. Genetics|November 2, 2020
Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespanKristine B Walhovd, Anders M Fjell, Øystein Sørensen, et al.Pageof 88