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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
by
Moss, Davina J Hensman, MBBS
,
Pardiñas, Antonio F, PhD
,
Langbehn, Douglas, Prof
,
Lo, Kitty, PhD
,
Leavitt, Blair R, Prof
,
Roos, Raymund, Prof
,
Durr, Alexandra, Prof
,
Mead, Simon, Prof
,
Holmans, Peter, Prof
,
Jones, Lesley, Prof
,
Tabrizi, Sarah J, Prof
Published in
Lancet neurology
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Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)
by
Stivaros, Stavros
,
Garg, Shruti
,
Tziraki, Maria
,
Cai, Ying
,
Thomas, Owen
,
Mellor, Joseph
,
Morris, Andrew A
,
Jim, Carly
,
Szumanska-Ryt, Karolina
,
Parkes, Laura M
,
Haroon, Hamied A
,
Montaldi, Daniela
,
Webb, Nicholas
,
Keane, John
,
Castellanos, Francisco X
,
Silva, Alcino J
,
Huson, Sue
,
Williams, Stephen
,
Gareth Evans, D
,
Emsley, Richard
,
Green, Jonathan
Published in
Molecular autism
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Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity St...
by
Ho, Aileen K.
,
Landwehrmeyer, G. Bernhard
,
Rae, Daniela
,
Simpson, Sheila A.
,
de Souza (Keylock), Jenny
,
Coulthard, Elizabeth
,
Gethin, Louise
,
Barker, Roger A.
,
Fisher, Kate
,
Goodman, Anna
,
Hill, Susan
,
Swain, Rachel
,
Guzman, Natalie Valle
,
Callaghan, Jenny
,
Fullam, Ruth
,
Rosser, Anne
,
Tonner, Alison
,
Edwards, Maureen
,
Ho, Carrie
,
Pearson, Pauline
,
Foster, Jillian
,
McKenzie, Sue
,
Rothery, Jean
,
Deith, Catherine
,
Ireland, Jane
,
Harding, Alison
,
Laver, Fiona
,
Silva, Mark
,
Rowett, Liz
,
Musgrave, Hannah
,
Toscano, Jean
,
Gerrans, Emily
,
Anjum, Uruj
,
Coebergh, Jan
,
Eddy, Charlotte
,
Rose, Sarah
,
Andrews, Thomasin
,
Dougherty, Andrew
,
Golding, Charlotte
,
Lashwood, Alison
,
Ruddy, Deborah
,
Santhouse, Alastair
,
Whaite, Anna
,
Doherty, Karen
,
Haider, Salman
,
Robertson, Nicola
,
Tabrizi, Sarah
,
Taylor, Rachel
,
Bek, Judith
,
Craufurd, David
,
Johnson, Liz
,
Jones, Mary
,
Krishnamoorthy, Ashok
,
Oughton, Emma
,
Partington-Jones, Lucy
,
Westmoreland, Leann
,
Davidson, Lynn
,
Davison, Jill
,
Morgan, Karen
,
Savage, Lois
,
Wood, Josh
,
Siuda, Gill
,
Dixon, Kathryn
,
Armstrong, Richard
,
Burn, John
,
Weekes, Rebecca
,
Craven, Janet
,
Verstraelen (Ritchie), Nicola
,
Barrett, Wendy
,
Bandmann, Oliver
,
Fairtlough, Helen
,
Fillingham, Kay
,
Foustanos, Isabella
,
Gill, Paul
,
Kazoka, Mbombe
,
Peppa, Nadia
,
Quarrell, Oliver
,
Tidswell, Katherine
,
Gunner, Kerry
,
Harris, Kayla
,
Anderson, Mary
,
Keys, Liane
,
Smalley, Sarah
,
El-Nimr, George
,
Duffell, Allison
,
Kennedy (nee Smith), Karen
,
Bucher, Walter
,
de Schepper, Beatrice
,
Eden, John
,
Hendrikx, Victor
,
King, Diana
,
Lenon-Bird, Anne
,
Rapaille, Lilliane
,
Santini, Helen
,
Sasinkova, Pavla
,
Soltysiak, Beverley
,
Smith, Steve
,
van der Leer, Hans
,
van der Meer, Lucienne
,
Wooldridge, Michael
Published in
Value in health
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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in...
by
Evans, D.G.
,
Bowers, N.
,
Burkitt-Wright, E.
,
Miles, E.
,
Garg, S.
,
Scott-Kitching, V.
,
Penman-Splitt, M.
,
Dobbie, A.
,
Howard, E.
,
Ealing, J.
,
Vassalo, G.
,
Wallace, A.J.
,
Newman, W.
,
Huson, S.M.
Published in
EBioMedicine
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Early development of infants with neurofibromatosis type 1: a case series
by
Kolesnik, Anna May
,
Jones, Emily Jane Harrison
,
Garg, Shruti
,
Green, Jonathan
,
Charman, Tony
,
Johnson, Mark Henry
Published in
Molecular autism
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Sex bias in autism spectrum disorder in neurofibromatosis type 1
by
Garg, Shruti
,
Heuvelman, Hein
,
Huson, Susan
,
Tobin, Hannah
,
Green, Jonathan
Published in
Journal of neurodevelopmental disorders
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Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study
by
Léonard, Marie-Claude
,
van de Wyngaerde, Françoise
,
Ribaï, Pascale
,
Boogaerts, Andrea
,
Jacobsen, Oda
,
Stockholm, Jette
,
Lolk, Annette
,
Sipponen, Marjett
,
Bonneau, Dominique
,
Babiloni, Blandine
,
Annic, Agnès
,
Carette, Anne-Sophie
,
Bellonet, Marcellin
,
Blin, Stéphanie
,
Mantaux, Béatrice
,
Playe, Alicia
,
Grosjean, Hélène
,
Charles, Perrine
,
Jauffret, Céline
,
Bliaux, Evangeline
,
Marcel, Christophe
,
Zimmermann, Marie-Agathe
,
Cheriet, Samia
,
Schlangen, Christiane
,
Priller, Josef
,
Herrmann, Lennard
,
Hunger, Ulrike
,
Kohl, Zacharias
,
Schrader, Christoph
,
Buck, Andrea
,
Connemann, Julia
,
Landwehrmeyer, Bernhard
,
Leypold, Christine
,
Sciruicchio, Vittorio
,
Bertini, Elisabetta
,
Ginestroni, Andrea
,
Paganini, Marco
,
Soliveri, Paola
,
Michele, Giuseppe De
,
Frontali, Marina
,
Quaranta, Davide
,
Soleti, Francesco
,
Duits, Annelien
,
Frich, Jan C.
,
Sikiric, Alma
,
Boćwińska, Dorota
,
Wójcik, Magdalena
,
Wasielewska, Anna
,
Bryl, Anna
,
Witkowski, Grzegorz
,
Semedo, Cristina
,
Guedes, Leonor Correia
,
Coelho, Miguel
,
Costa, Andreia
,
Pardo, Sonia Arribas
,
Martín, Idaira
,
Villanueva, Marina Ávila
,
García-Ramos García, Rocío
,
García Ruíz, Pedro José
,
Martin, Veronica Puertas
,
Martínez Pueyo, Angel
,
Diéguez, Esther
,
Guisasola, Luis Menéndez
,
Mir, Pablo
,
Fernandez, Cristina Melgar
,
Romero Lemos, María Dolores
,
Burguera, Juan Andres
,
Paucar, Martin
,
Burgunder, Jean-Marc
,
Summers, Fiona
,
Vaughan, Vivien
,
Vernon, Nathan
,
Mason, Sarah
,
Foster, Jillian
,
Johns, Nicola
,
Thomas, Gareth
,
Harding, Alison
,
Yardumian, Pam
,
Freire-Patino, Dawn
,
Alusi, Sundus
,
Anjum, Uruj
,
Eddy, Charlotte
,
Robertson, Dene
,
Rosser, Elisabeth
,
Johnson, Liz
,
Verstraelen, Nicola
,
Westmoreland, Leann
,
O’Neill, Mari
,
Parkinson, Andrew
,
Timings, Leanne
,
Bradbury, Alyson
,
Taylor, Cat
,
Harris, Kayla
,
Hayward, Elaine
,
Smalley, Sarah
,
Fuller, Kathleen
,
Uhrova, Tereza
,
Mütze, Lisanne
,
Šašinková, Pavla
,
Timewell, Erika
Published in
Journal of Huntington's disease
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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism
by
KOOLEN, David A
,
DUPONT, Juliette
,
DE VRIES, Bert B. A
,
PARKER, Michael J
,
DE LEEUW, Nicole
,
VISSERS, Lisenka E. L. M
,
VAN DEN HEUVEL, Simone P. A
,
BRADBURY, Alyson
,
STEER, James
,
DE BROUWER, Arjan P. M
,
TEN KATE, Leo P
,
NILLESEN, Willy M
Published in
European journal of human genetics : EJHG
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