Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model by NEMETH, Andrea H, KWASNIEWSKA, Alexandra C, TALBOT, Kevin, DE SILVA, Rajith, FLETCHER, Nicholas, HASTINGS, Rob, JAYAWANT, Sandeep, MORRISON, Patrick J, WORTH, Paul, TAYLOR, Malcolm, TOLMIE, John, O'REGAN, Mary, LISE, Stefano, VALENTINE, Ruth, PACKHAM, Emily, EVANS, Julie, SELLER, Anneke, RAGOUSSIS, Jiannis, SCHNEKENBERG, Ricardo Parolin, BECKER, Esther B. E, BERA, Katarzyna D, SHANKS, Morag E, GREGORY, Lorna, BUCK, David, ZAMEEL CADER, M

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De novo point mutations in patients diagnosed with ataxic cerebral palsy by Parolin Schnekenberg, Ricardo, Perkins, Emma M, Miller, Jack W, Davies, Wayne I L, D'Adamo, Maria Cristina, Pessia, Mauro, Fawcett, Katherine A, Sims, David, Gillard, Elodie, Hudspith, Karl, Skehel, Paul, Williams, Jonathan, O'Regan, Mary, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Sarah, Lustenberger, Andrea, Ragoussis, Jiannis, Jackson, Mandy, Tucker, Stephen J, Németh, Andrea H

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model by Németh, Andrea H., Kwasniewska, Alexandra C., Lise, Stefano, Parolin Schnekenberg, Ricardo, Becker, Esther B. E., Bera, Katarzyna D., Shanks, Morag E., Gregory, Lorna, Buck, David, Zameel Cader, M., Talbot, Kevin, de Silva, Rajith, Fletcher, Nicholas, Hastings, Rob, Jayawant, Sandeep, Morrison, Patrick J., Worth, Paul, Taylor, Malcolm, Tolmie, John, O’Regan, Mary, Valentine, Ruth, Packham, Emily, Evans, Julie, Seller, Anneke, Ragoussis, Jiannis

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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 by Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Jayawant, Sandeep, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.

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Next-generation sequencing in childhood disorders by Schnekenberg, Ricardo Parolin, Németh, Andrea H

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design by Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

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Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development by Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Schnekenberg, Ricardo Parolin, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M Zameel, Hughes, Sarah, Armstrong, Richard J E, Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C, Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha J L, Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H

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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 by Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Jayawant, Sandeep, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.

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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 by Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Jayawant, Sandeep, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.

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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5 by Rajan, Deepa S, Kour, Sukhleen, Fortuna, Tyler R, Cousin, Margot A, Barnett, Sarah S, Niu, Zhiyv, Babovic-Vuksanovic, Dusica, Klee, Eric W, Kirmse, Brian, Innes, Micheil, Rydning, Siri Lynne, Selmer, Kaja K, Vigeland, Magnus Dehli, Erichsen, Anne Kjersti, Nemeth, Andrea H, Millan, Francisca, DeVile, Catherine, Fawcett, Katherine, Legendre, Adrien, Sims, David, Schnekenberg, Ricardo Parolin, Burglen, Lydie, Mercier, Sandra, Bakhtiari, Somayeh, Francisco-Velilla, Rosario, Embarc-Buh, Azman, Martinez-Salas, Encarnacion, Wigby, Kristen, Lenberg, Jerica, Friedman, Jennifer R, Kruer, Michael C, Pandey, Udai Bhan

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Recessive Mutations in SPTBN2 Implicate [beta]-III Spectrin in Both Cognitive and Motor Development by Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Akha, Elham Sadighi, Schnekenberg, Ricardo Parolin, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M Zameel, Hughes, Sarah, Armstrong, Richard JE, Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C, Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha JL, Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H

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