Neurol Genet

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

Ben-Shabat I, Kvarnung M, Sperker W, ..., Engvall M, Paucar M

Neurol Genet 9 (6) e200100 [2023-12-00; online 2023-11-28]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant.

Paucar M, Tesi B, Eshtad S, ..., Bryceson YT, Svenningsson P

Neurol Genet 7 (6) e628 [2021-12-00; online 2021-10-28]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report.

Hussein D, Olsson C, Lagerstedt-Robinson K, Moreira T

Neurol Genet 7 (6) e625 [2021-12-00; online 2021-09-14]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.

Bruhn H, Samuelsson K, Schober FA, ..., Wedell A, Wredenberg A

Neurol Genet 7 (2) e566 [2021-04-00; online 2021-03-15]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor.

Ilinca A, Englund E, Samuelsson S, ..., Lindgren AG, Puschmann A

Neurol Genet 7 (1) e548 [2021-02-00; online 2021-01-21]

Clinical Genomics [Service] Clinical Genomics Lund [Service]

Heterozygous variants in DCC: Beyond congenital mirror movements.

Thams S, Islam M, Lindefeldt M, ..., Nilsson D, Paucar M

Neurol Genet 6 (6) e526 [2020-12-00; online 2020-10-20]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.

Stödberg T, Magnusson M, Lesko N, ..., Stranneheim H, Wedell A

Neurol Genet 6 (4) e478 [2020-08-00; online 2020-07-02]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]