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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 1 |
2017 | 1 |
2021 | 4 |
2024 | 0 |
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6 results
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Page 1
Unilateral erythema or unilateral pallor?
Tidsskr Nor Laegeforen. 2021 Sep 5;141. doi: 10.4045/tidsskr.21.0319. Print 2021 Sep 7.
Tidsskr Nor Laegeforen. 2021.
PMID: 34505470
Free article.
English, Norwegian.
No abstract available.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF; iNTD Registry Study Group; García-Cazorla A, Opladen T.
Kuseyri Hübschmann O, et al.
Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5.
Nat Commun. 2021.
PMID: 34545092
Free PMC article.
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Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, García-Cazorla A, Opladen T; International Working Group on Neurotransmitter Related Disorders (iNTD); Harting I.
Kuseyri Hübschmann O, et al. Among authors: koht ja.
J Inherit Metab Dis. 2021 Jul;44(4):1070-1082. doi: 10.1002/jimd.12360. Epub 2021 Jan 28.
J Inherit Metab Dis. 2021.
PMID: 33443316
Free article.
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Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H; International Working Group on Neurotransmitter related Disorders (iNTD); Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanović G, Fung CW.
Keller M, et al. Among authors: koht ja.
J Inherit Metab Dis. 2021 Nov;44(6):1489-1502. doi: 10.1002/jimd.12416. Epub 2021 Aug 2.
J Inherit Metab Dis. 2021.
PMID: 34245036
Free article.
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STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S.
Heimdal K, et al. Among authors: koht ja.
Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0.
Orphanet J Rare Dis. 2014.
PMID: 25258038
Free PMC article.
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A recessive ataxia diagnosis algorithm for the next generation sequencing era.
Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group.
Renaud M, et al.
Ann Neurol. 2017 Dec;82(6):892-899. doi: 10.1002/ana.25084. Epub 2017 Nov 21.
Ann Neurol. 2017.
PMID: 29059497
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