Search Results - "ZÜCHNER, L"

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures by Beijer, Danique, Züchner, Stephan L.

“…All non-erythroid spectrin protein can be considered large containing at least 2,300 residues. [...]despite their general genetic constraint, spectrin genes…”
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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease by Cinarli Yuksel, Feride, Nicolaou, Paschalis, Spontarelli, Kerri, Dohrn, Maike F., Rebelo, Adriana P., Koutsou, Pantelitsa, Georghiou, Anthi, Artigas, Pablo, Züchner, Stephan L., Kleopa, Kleopas A., Christodoulou, Kyproula

“…Background Charcot–Marie–Tooth disease (CMT) is a genetically and clinically heterogeneous group of inherited neuropathies. Monoallelic pathogenic variants in…”
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High prevalence of nasal MRSA carriage in slaughterhouse workers in contact with live pigs in The Netherlands by VAN CLEEF, B. A. G. L., BROENS, E. M., VOSS, A., HUIJSDENS, X. W., ZÜCHNER, L., VAN BENTHEM, B. H. B., KLUYTMANS, J. A. J. W., MULDERS, M. N., VAN DE GIESSEN, A. W.

“…Livestock-associated MRSA has been found in various animals, livestock farmers and retail meat. This study aimed to determine the prevalence and determinants…”
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Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease by Kohli, Martin A, Cukier, Holly N, Hamilton-Nelson, Kara L, Rolati, Sophie, Kunkle, Brian W, Whitehead, Patrice L, Züchner, Stephan L, Farrer, Lindsay A, Martin, Eden R, Beecham, Gary W, Haines, Jonathan L, Vance, Jeffery M, Cuccaro, Michael L, Gilbert, John R, Schellenberg, Gerard D, Carney, Regina M, Pericak-Vance, Margaret A

“…The genetic risk architecture of Alzheimer disease (AD) is complex with single pathogenic mutations leading to early-onset AD, while both rare and common…”
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Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis by Dohrn, Maike F., Ihne, Sandra, Hegenbart, Ute, Medina, Jessica, Züchner, Stephan L., Coelho, Teresa, Hahn, Katrin

“…The liver‐derived, circulating transport protein transthyretin (TTR) is the cause of systemic hereditary (ATTRv) and wild‐type (ATTRwt) amyloidosis. TTR…”
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Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa by Lam, Byron L, Züchner, Stephan L, Dallman, Julia, Wen, Rong, Alfonso, Eduardo C, Vance, Jeffery M, Peričak-Vance, Margaret A

“…A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis…”
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Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish by Wen, Rong, Dallman, Julia E, Li, Yiwen, Züchner, Stephan L, Vance, Jeffery M, Peričak-Vance, Margaret A, Lam, Byron L

“…A mutation in the dehydrodolichol diphosphate synthase (DHDDS) was recently identified as the cause of a subtype of recessive retinitis pigmentosa (RP)…”
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Increased Expression of CNTF Receptor α in Denervated Human Skeletal Muscle by Weis, J, Lie, D C, Ragoss, U, Züchner, S L, Schröder, J M, G Karpati, Farruggella, T, Stahl, N, Yancopoulos, G D, DiStefano, P S

“…The functional receptor for ciliary neurotrophic factor (CNTF) is comprised of a CNTF binding entity termed CNTF receptor α (CNTFRα ), and 2 signaling…”
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Clinical Reasoning: A case of bilateral foot drop in a 74-year-old man by Harada, Yohei, Zuchner, Stephan L., Herrmann, David N., Veerapandiyan, Aravindhan

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PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway by De Winter, Jonathan, Beijer, Danique, De Ridder, Willem, Synofzik, Matthis, Zuchner, Stephan L, Van Damme, Philip, Spileers, Werner, Baets, Jonathan

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Community genetics: Genetics boosts US-Cuban links by Isasi, Rosario, Zuchner, Stephan L, Villafranca, Roberto Cañete

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Local cluster of psittacosis after bird show in the Netherlands, November 2007 by Koene, R, Hautvast, J, Zuchner, L, Voorn, P, Rooyackers-Lemmens, E, Noel, H, Swaan, C

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Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand by Kulsirichawaroj, Pimchanok, Suksangkharn, Yanin, Nam, Da Eun, Pho-Iam, Theeraphong, Limwongse, Chanin, Chung, Ki Wha, Sanmaneechai, Oranee, Zuchner, Stephan L, Choi, Byung-Ok

“…Inherited peripheral neuropathy presents a diagnostic and therapeutic challenge due to its association with mutations in over 100 genes. This condition leads…”
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High prevalence of nasal MRSA carriage in slaughterhouse workers in contact with live pigs in The Netherlands: Epidemiology of MRSA with Emphasis on Veterinary and Community Settings by VAN CLEEF, B. A. G. L, BROENS, E. M, VOSS, A, HUIJSDENS, X. W, ZÜCHNER, L, VAN BENTHEM, B. H. B, KLUYTMANS, J. A. J. W, MULDERS, M. N, VAN DE GIESSEN, A. W

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CNTF and its receptor subunits in human gliomas by Weis, J, Schönrock, L M, Züchner, S L, Lie, D C, Sure, U, Schul, C, Stögbauer, F, Ringelstein, E B, Halfter, H

“…Ciliary neurotrophic factor (CNTF) promotes the survival of various neuronal cell populations. It is produced by astrocytes and influences the development and…”
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Increased Expression of CNTF Receptor [alpha] in Denervated Human Skeletal Muscle by Weis, J, Lie, D. C, Ragoss, U, Züchner, S. L, Schröder, J. M, Karpati, G, Farruggella, T, Stahl, N, Yancopoulos, G. D, DiStefano, P. S

“…The functional receptor for ciliary neurotrophic factor (CNTF) is comprised of a CNTF binding entity termed CNTF receptor a (CNTFR[alpha]), and 2 signaling…”
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Short and Medium Range Order in Sodium Aluminoborate Glasses. 2. Site Connectivities and Cation Distributions Studied by Rotational Echo Double Resonance NMR Spectroscopy by Bertmer, Marko, Züchner, Lars, Chan, Jerry C. C, Eckert, Hellmut

“…A quantitative NMR strategy is developed for the study of the network connectivity (intermediate range structure) and the cation distribution in the sodium…”
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11B[27Al] and 27Al[11B] double resonance experiments on a glassy sodium aluminoborate by van Wüllen, L, Züchner, L, Müller-Warmuth, W, Eckert, H

“…Cross-polarization/magic-angle spinning (CP/MAS) and rotational echo double resonance (REDOR) experiments involving two half-integer quadrupolar nuclei, 11B…”
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Genetics boosts US–Cuban links by Isasi, Rosario, Zuchner, Stephan L., Villafranca, Roberto Cañete

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CNTF and its receptor subunits in human gliomas. Commentary by WEIS, J, SCHÖNROCK, L. M, ZÜCHNER, S. L, LIE, D. C, SURE, U, SCHUL, C, STÖGBAUER, F, RINGELSTEIN, E. B, HALFTER, H, SCHIFFER, D

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