Search Results - "Zuchner, Stephan L."

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

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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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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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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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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 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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