Latest Articles

Subject

Research Article
ALS in FinlandMajor Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, et al.

March 14, 2022
Research Article
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
Albert L. Misko, Levi B. Wood, Madeline DeBono, et al.

March 10, 2022
Research Article
Not Just Loss-of-Function VariationsIdentification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, et al.

March 09, 2022
Research Article
Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
Marius Hippen, Gábor Zsurka, Viktoriya Peeva, et al.

March 03, 2022
Clinical/Scientific Note
Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus CallosumA Case Report
Francesco Nicita, Lorena Travaglini, Francesco Bombelli, et al.

March 03, 2022
Article
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
Lea Leonardis, Marusa Skrjanec Pusenjak, Ales Maver, et al.

March 01, 2022
Correction
Migraine, Stroke, and Cervical Arterial DissectionShared Genetics for a Triad of Brain Disorders With Vascular Involvement
February 21, 2022
Clinical/Scientific Note
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, et al.

February 17, 2022
Views & Reviews
Therapy Trial Design in Vanishing White MatterAn Expert Consortium Opinion
Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, et al.

February 02, 2022
Article
Migraine, Stroke, and Cervical Arterial DissectionShared Genetics for a Triad of Brain Disorders With Vascular Involvement
Iyas Daghlas, Muralidharan Sargurupremraj, Rebecca Danning, et al.

February 01, 2022

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