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Neurology. Genetics|November 3, 2022
Phenotypic Spectrum of DNM2-Related Centronuclear MyopathyLeslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, et al.
Neurology. Genetics|November 3, 2022
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic StudyBarbora Straka, Barbora Hermanovska, Lenka Krskova, et al.
Neurology. Genetics|September 14, 2022
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct PhenotypesMinas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, et al.
Neurology. Genetics|September 30, 2022
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure PalsyYasuko Kuroha, Takanobu Ishiguro, Mari Tada, et al.
Neurology. Genetics|October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile EpilepsyJan H Döring, Afshin Saffari, Thomas Bast, et al.
Neurology. Genetics|January 18, 2024
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset AtaxiaSolveig Heide, Claire-Sophie Davoine, Paulina Cunha, et al.
Neurology. Genetics|January 18, 2024
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental DisorderAndrea Pietra, Flavia Palombo, Melania Giannotta, et al.
Neurology. Genetics|January 12, 2024
Erratum: Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Neurology. Genetics|January 18, 2024
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Neurology. Genetics|January 3, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar SubtypeAdrienne Elbert, Katherine Dixon, Yaoqing Shen, et al.
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