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

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

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Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia by 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 by 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) by 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 by Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vivian Cintra, Stephan Züchner

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Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 by Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews

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

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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 by 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 by 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 by 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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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci by 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 by 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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Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death by Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer, Philippe Latour

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P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site by 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 by 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 by 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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GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context by David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik

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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. by Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson

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The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyResearch in context by Riwei Ouyang, Linlin Wan, David Pellerin, Zhe Long, Jian Hu, Qian Jiang, Chunrong Wang, Linliu Peng, Huirong Peng, Lang He, Rong Qiu, Junling Wang, Jifeng Guo, Lu Shen, Bernard Brais, Matt C. Danzi, Stephan Zuchner, Beisha Tang, Zhao Chen, Hong Jiang

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