The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics von Hersheson, Joshua, Haworth, Andrea, Houlden, Henry

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Refined exercise testing can aid dna-based diagnosis in muscle channelopathies von Tan, S. Veronica, Matthews, Emma, Barber, Melissa, Burge, James A., Rajakulendran, Sanjeev, Fialho, Doreen, Sud, Richa, Haworth, Andrea, Koltzenburg, Martin, Hanna, Michael G.

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Prevalence study of genetically defined skeletal muscle channelopathies in England von HORGA, Alejandro, RAJA RAYAN, Dipa L, HANNA, Michael G, MATTHEWS, Emma, SUD, Richa, FIALHO, Doreen, DURRAN, Siobhan C. M, BURGE, James A, PORTARO, Simona, DAVIS, Mary B, HAWORTH, Andrea

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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis von Pemberton, Lara, Barker, Robert, Cockell, Anna, Ramachandran, Vijaya, Haworth, Andrea, Homfray, Tessa

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New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics von RAHEEM, Olayinka, PENTTILÄ, Sini, METSIKKÖ, Kalervo, HANNA, Michael, UDD, Bjarne, SUOMINEN, Tiina, KAAKINEN, Mika, BURGE, James, HAWORTH, Andrea, SUD, Richa, SCHORGE, Stephanie, HAAPASALO, Hannu, SANDELL, Satu

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Translating genetic and functional data into clinical practice: a series of 223 families with myotonia von Suetterlin, Karen, Matthews, Emma, Sud, Richa, McCall, Samuel, Fialho, Doreen, Burge, James, Jayaseelan, Dipa, Haworth, Andrea, Sweeney, Mary G, Kullmann, Dimitri M, Schorge, Stephanie, Hanna, Michael G, Männikkö, Roope

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies von Hensman Moss, Davina J, Poulter, Mark, Beck, Jon, Hehir, Jason, Polke, James M, Campbell, Tracy, Adamson, Garry, Mudanohwo, Ese, McColgan, Peter, Haworth, Andrea, Wild, Edward J, Sweeney, Mary G, Houlden, Henry, Mead, Simon, Tabrizi, Sarah J

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Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia von Hall, Christine M., Liu, Becky, Haworth, Andrea, Reed, Laura, Pryce, Jeremy, Mansour, Sahar

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Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia: A Randomized Controlled Trial von Statland, Jeffrey M, Bundy, Brian N, Wang, Yunxia, Rayan, Dipa Raja, Trivedi, Jaya R, Sansone, Valeria A, Salajegheh, Mohammad K, Venance, Shannon L, Ciafaloni, Emma, Matthews, Emma, Meola, Giovanni, Herbelin, Laura, Griggs, Robert C, Barohn, Richard J, Hanna, Michael G

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eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings von Haworth, Andrea, Homfray, Tessa, Drury, Suzanne, Dubis, Rand, McEntagart, Meriel, Brown, Kate Tatton, Savage, Helen, Filby, John, Lench, Nick, Serra, Eva, Trump, Natalie, Lahiri, Nayana, Kenny, Janna, Elmslie, Frances, Ostrowski, Phillip, Dempsey, Esther, Short, John, Crosby, Charlene, Hall, Christine, Mansour, Sahar

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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome von Cordeddu, Viviana, Macke, Erica L., Radio, Francesca Clementina, Lo Cicero, Stefania, Pantaleoni, Francesca, Tatti, Massimo, Bellacchio, Emanuele, Ciolfi, Andrea, Agolini, Emanuele, Bruselles, Alessandro, Brunetti‐Pierri, Nicola, Suri, Mohnish, Josephs, Katherine S., McEntagart, Meriel, Lanpher, Brendan, Nickels, Katherine C., Haworth, Andrea, Reed, Laura, Cappuccio, Gerarda, Mammi, Isabella, Tarnowski, Jessica M., Novelli, Antonio, Melis, Daniela, Callewaert, Bert, Dallapiccola, Bruno, Klee, Eric, Tartaglia, Marco

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Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity von Kleyner, Robert, Arif, Mohammad, Marchi, Elaine, Horowitz, Naomi, Haworth, Andrea, King, Brian, Gavin, Maureen, Amble, Karen, Velinov, Milen, Lyon, Gholson J

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Early-onset cerebellar ataxia in a patient with CMT2A2 von Madrid, Ricardo, Guariglia, Sara R, Haworth, Andrea, Korosh, William, Gavin, Maureen, Lyon, Gholson J

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In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2 von Tomlinson, Susan E, Tan, S Veronica, Burke, David, Labrum, Robyn W, Haworth, Andrea, Gibbons, Vaneesha S, Sweeney, Mary G, Griggs, Robert C, Kullmann, Dimitri M, Bostock, Hugh, Hanna, Michael G

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Autosomal recessive SLC30A9 variants in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity von Kleyner, Robert, Mohammad, Arif, Marchi, Elaine, Horowitz, Naomi, Haworth, Andrea, King, Brian, Amble, Karen, Gavin, Maureen, Velinov, Milen, Lyon, Gholson J

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VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation von Lyon, Gholson J, Marchi, Elaine, Ekstein, Joseph, Meiner, Vardiella, Hirsch, Yoel, Scher, Sholem, Yang, Edward, De Vivo, Darryl C, Madrid, Ricardo, Li, Quan, Wang, Kai, Haworth, Andrea, Chilton, Ilana, Chung, Wendy K, Velinov, Milen

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An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family von Ling, Helen, Polke, James M., Sweeney, Mary G., Haworth, Andrea, Sandford, Catherine A., Heales, Simon J.R., Wood, Nicholas W., Davis, Mary B., Lees, Andrew J.

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Call for participation in the neurogenetics consortium within the Human Variome Project von Haworth, Andrea, Bertram, Lars, Carrera, Paola, Elson, Joanna L., Braastad, Corey D., Cox, Diane W., Cruts, Marc, den Dunnen, Johann T., Farrer, Matthew J., Fink, John K., Hamed, Sherifa A., Houlden, Henry, Johnson, Dennis R., Nuytemans, Karen, Palau, Francesc, Rayan, Dipa L. Raja, Robinson, Peter N., Salas, Antonio, Schüle, Birgitt, Sweeney, Mary G., Woods, Michael O., Amigo, Jorge, Cotton, Richard G. H., Sobrido, Maria-Jesus

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SSCP analysis: A blind sensitivity trial von Jordanova, Albena, Kalaydjieva, Luba, Savov, Alexey, Claustres, Mireille, Schwarz, Martin, Estivill, Xavier, Angelicheva, Dora, Haworth, Andrea, Casals, Teresa, Kremensky, Ivo

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Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+... von Malone, Geraldine, Haworth, Andrea, Schwarz, Martin J., Cuppens, Harry, Super, Maurice

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