खोज परिणाम - Stephan Zuchner

No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes द्वारा Maike F. Dohrn, Christina Dumke, Ingo Kurth, Stephan Züchner

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Somatic mtDNA mutation spectra in the aging human putamen. द्वारा Siôn L Williams, Deborah C Mash, Stephan Züchner, Carlos T Moraes

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Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy द्वारा Christopher Yanick, Renata Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael Shy, Stephan Zuchner, Mario Saporta

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P265: Exploring ophthalmological diagnoses in the Undiagnosed Diseases Network: Insights and implications द्वारा Stephanie Bivona, Carson Smith, Nicholas Borja, Guney Bademci, LéShon Peart, Stephan Zuchner, Mustafa Tekin

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Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia द्वारा David Pellerin, Matt C. Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais

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P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder द्वारा Irman Forghani, Steven Lang, Mustafa Tekin, Guney Bademci, Stephanie Bivona, Stephan Zuchner, Matthew Rodier, Alejo Morales

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O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN) द्वारा Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin

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Deep structured learning for variant prioritization in Mendelian diseases द्वारा Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vivian Cintra, Stephan Züchner

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COPI-regulated mitochondria-ER contact site formation maintains axonal integrity द्वारा Daniel C. Maddison, Bilal Malik, Leonardo Amadio, Dana M. Bis-Brewer, Stephan Züchner, Owen M. Peters, Gaynor A. Smith

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Genetic ancestry and population structure in the All of Us Research Program cohort द्वारा Shivam Sharma, Shashwat Deepali Nagar, Priscilla Pemu, Stephan Zuchner, SEEC Consortium, Leonardo Mariño-Ramírez, Robert Meller, I. King Jordan

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Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties द्वारा Sheila M. Peeples, Keyana Blake, Brendan L.M. Sutton, Marina Konyukh, Stephan Züchner, Tanya Stojkovic, Jonathan Baets, Anthony Antonellis

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Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene द्वारा Elizabeth H. Jacobs, Jacquelyn Schatzman Raposo, Annarita Scardamaglia, Fowzan S. Alkuraya, Shahriar Nafissi, Henry Houlden, Stephan Zuchner, Mario A. Saporta

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Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens द्वारा Jeannette Osterloh, Mary Logan, Marc Freeman, Rafael F. Acosta Lebrigio, Rick H. Ulloa, Derek Van Booven, William Hulme, Michael A. Gonzalez, Stephan Zuchner

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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation द्वारा Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

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P154: Diagnostic value of repeat expansion disorders detected in genome sequencing data* द्वारा Jennefer Carter, Sarah Fazal, Devon Bonner, Chloe Reuter, Tanner Jensen, Rachel Ungar, Page Goddard, Jacinda Sampson, Brianna Tucker, Elijah Kravets, Shruti Marwaha, Stephen Montgomery, Stephan Zuchner, Jonathan Bernstein, Matthew Wheeler

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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci द्वारा Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar-Pulido

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Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency द्वारा Yi Zhu, Amanda G. Lobato, Adriana P. Rebelo, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao, Sheyum Syed, Christopher Yanick, Mario Saporta, Michael Shy, Riccardo Perfetti, Shoshana Shendelman, Stephan Züchner, R. Grace Zhai

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P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site द्वारा Stephanie Bivona, Mustafa Tekin, Guney Bademci, Carson Smith, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Stephan Zuchner

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P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site द्वारा Guney Bademci, Stephanie Bivona, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Carson Smith, Stephan Zuchner, Mustafa Tekin

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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism द्वारा Maike F. Dohrn, Guney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, Matt C. Danzi, Stephanie A. Bivona, Paul Gueguen, Mohammad F. Zafeer, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner

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