Latest Articles
- Research ArticleALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat ExpansionHannu Laaksovirta, Jyrki Launes, Lilja Jansson, et al.March 14, 2022
- Research ArticleCross-sectional Observations on the Natural History of Mucolipidosis Type IVAlbert L. Misko, Levi B. Wood, Madeline DeBono, et al.March 10, 2022
- Research ArticleNot Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense SubstitutionAngelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, et al.March 09, 2022
- Research ArticleNovel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial GenomeMarius Hippen, Gábor Zsurka, Viktoriya Peeva, et al.March 03, 2022
- Clinical/Scientific NoteNovel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case ReportFrancesco Nicita, Lorena Travaglini, Francesco Bombelli, et al.March 03, 2022
- ArticleAxonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, et al.March 01, 2022
- Clinical/Scientific NoteParoxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical FeaturesYu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, et al.February 17, 2022
- Views & ReviewsTherapy Trial Design in Vanishing White MatterAn Expert Consortium OpinionMarjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, et al.February 02, 2022
- ArticleMigraine, Stroke, and Cervical Arterial DissectionShared Genetics for a Triad of Brain Disorders With Vascular InvolvementIyas Daghlas, Muralidharan Sargurupremraj, Rebecca Danning, et al.February 01, 2022
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Dr. Jeffrey Allen and Dr. Nicholas Purcell