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Neurol Genet
JSON
ISSN
2376-7839
ISSN-L
2376-7839
IUID
e7f41c33a71f4f3ba0eda2db37fcc6dd
Modified
2020-11-27T13:14:10.078Z
Created
2020-08-17T09:40:26.383Z
Year 2023
PubMed
DOI
Crossref
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 Stockholm [Service]
Year 2021
PubMed
DOI
Crossref
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 Stockholm [Service]
PubMed
DOI
Crossref
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 Stockholm [Service]
PubMed
DOI
Crossref
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 Stockholm [Service]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
PubMed
DOI
Crossref
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 Lund [Service]
Year 2020
PubMed
DOI
Crossref
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 Stockholm [Service]
PubMed
DOI
Crossref
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 Stockholm [Service]
SciLifeLab Data Centre
Publications
9.5.1