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1.	Bramswig, NC, et al. (author) Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism 2017 In: Human genetics. - : Springer Science and Business Media LLC. - 1432-1203 .- 0340-6717. ; 136:2, s. 179-192 Journal article (peer-reviewed)
2.	Chen, YC, et al. (author) Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception 2015 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:8, s. 962-962 Journal article (other academic/artistic)
3.	Chen, YC, et al. (author) Transcriptional regulator PRDM12 is essential for human pain perception 2015 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:7, s. 803- Journal article (peer-reviewed)
4.	Haack, TB, et al. (author) Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy 2016 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 99:3, s. 735-743 Journal article (peer-reviewed)
5.	Howard, JF Jr, et al. (author) Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study 2017 In: The Lancet. Neurology. - 1474-4465. ; 16:12, s. 976-986 Journal article (peer-reviewed)
6.	Senderek, J, et al. (author) Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect 2011 In: American journal of human genetics. - 0002-9297. ; 88:2, s. 162-172 Journal article (peer-reviewed)abstract Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of neuromusculartransmission, termed congenital myasthenic syndromes (CMS), has helped elucidate fundamental processes influencing development and function of the nerve-muscle synapse. Using genetic linkage, we find 18 different biallelic mutations in the gene encoding glutamine-fructose-6-phosphate transaminase 1 (GFPT1) in 13 unrelated families with an autosomal recessive CMS. Consistent with these data, downregulation of the GFPT1 ortholog gfpt1 in zebrafish embryos altered muscle fiber morphology and impaired neuromuscular junction development. GFPT1 is the key enzyme of the hexosaminepathway yielding the amino sugar UDP-N-acetylglucosamine, an essential substrate for protein glycosylation. Our findings provide further impetus to study the glycobiology of NMJ and synapses in general.
7.	Sharma, M, et al. (author) A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants 2012 In: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 49:11, s. 721-726 Journal article (peer-reviewed)
8.	Shashi, V, et al. (author) Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 2018 In: The EMBO journal. - : EMBO. - 1460-2075 .- 0261-4189. ; 37:23 Journal article (peer-reviewed)
9.	van der Zee, J, et al. (author) Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration 2014 In: Acta neuropathologica. - : Springer Science and Business Media LLC. - 1432-0533 .- 0001-6322. ; 128:3, s. 397-410 Journal article (peer-reviewed)
10.	White, KE, et al. (author) The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secretedpolypeptide overexpressed by tumors that cause phosphate wasting. 2001 In: J Clin Endocrinol Metab. ; 86, s. 497- Journal article (peer-reviewed)

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Type of publication: journal article (10)

Type of content: peer-reviewed (9); other academic/artistic (1)

Author/Editor: Strom, TM (9); Senderek, J. (5); Dusl, M (4); Wieland, T (3); Schoser, B. (3); Chrast, R (3); show more...; Stucka, R (3); De Jonghe, P (3); Bergmann, C. (2); Pereira, D. (2); Van Damme, P (2); Parman, Y. (2); Moog, U (2); Prokisch, H (2); Reimann, F. (2); Jensen, UB (2); Meitinger, T (2); Van Broeckhoven, C (2); Finke, C (2); Stendel, C (2); Windhager, R. (2); Weiss, C (2); Chen, YC (2); Murata, M (2); Irvine, AD (2); Baets, J (2); Rautenstrauss, B (2); Weis, J (2); Auer-Grumbach, M (2); Matsukawa, S (2); Zitzelsberger, M (2); Themistocleous, AC (2); Samara, C (2); Moore, AW (2); Young, GT (2); Schabhuttl, M (2); Schmid, AB (2); Graul-Neumann, L (2); Heinritz, W (2); Passarge, E (2); Watson, RM (2); Hertz, JM (2); Baumgartner, M (2); Valente, EM (2); Restrepo, CM (2); Katona, I (2); Stafford, F (2); von Au, K (2); Willems, PJ (2); Nahorski, MS (2); show less...

University: Karolinska Institutet (8); University of Gothenburg (1); Uppsala University (1)

Language: English (10)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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