Found: 12

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  • Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5086, doi. 10.1093/brain/awad314
    By:
    • Morgan, Angela T;
    • Scerri, Thomas S;
    • Vogel, Adam P;
    • Reid, Christopher A;
    • Quach, Mara;
    • Jackson, Victoria E;
    • McKenzie, Chaseley;
    • Burrows, Emma L;
    • Bennett, Mark F;
    • Turner, Samantha J;
    • Reilly, Sheena;
    • Horton, Sarah E;
    • Block, Susan;
    • Kefalianos, Elaina;
    • Frigerio-Domingues, Carlos;
    • Sainz, Eduardo;
    • Rigbye, Kristin A;
    • Featherby, Travis J;
    • Richards, Kay L;
    • Kueh, Andrew
    Publication type:
    Article

  • Atypical development of Broca's area in a large family with inherited stuttering.

    Published in:
    2022
    By:
    • Thompson-Lake, Daisy G Y;
    • Scerri, Thomas S;
    • Block, Susan;
    • Turner, Samantha J;
    • Reilly, Sheena;
    • Kefalianos, Elaina;
    • Bonthrone, Alexandra F;
    • Helbig, Ingo;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E;
    • Hildebrand, Michael S;
    • Liégeois, Frédérique J;
    • Morgan, Angela T
    Publication type:
    journal article

  • Dorsal language stream anomalies in an inherited speech disorder.

    Published in:
    2019
    By:
    • Liégeois, Frédérique J;
    • Turner, Samantha J;
    • Mayes, Angela;
    • Bonthrone, Alexandra F;
    • Boys, Amber;
    • Smith, Libby;
    • Parry-Fielder, Bronwyn;
    • Mandelstam, Simone;
    • Spencer-Smith, Megan;
    • Bahlo, Melanie;
    • Scerri, Tom S;
    • Hildebrand, Michael S;
    • Scheffer, Ingrid E;
    • Connelly, Alan;
    • Morgan, Angela T
    Publication type:
    journal article

  • Clinical genetic study of the epilepsy-aphasia spectrum.

    Published in:
    Epilepsia (Series 4), 2013, v. 54, n. 2, p. 280, doi. 10.1111/epi.12065
    By:
    • Tsai, Meng‐Han;
    • Vears, Danya F.;
    • Turner, Samantha J.;
    • Smith, Robert L.;
    • Berkovic, Samuel F.;
    • Sadleir, Lynette G.;
    • Scheffer, Ingrid E.
    Publication type:
    Article

  • Clinical Research Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families.

    Published in:
    Epilepsia (Series 4), 2004, v. 45, n. 5, p. 467, doi. 10.1111/j.0013-9580.2004.46803.x
    By:
    • Marini, Carla;
    • Scheffer, Ingrid E.;
    • Crossland, Kathryn M.;
    • Grinton, Bronwyn E.;
    • Phillips, Fiona L.;
    • McMahon, Jacinta M.;
    • Turner, Samantha J.;
    • Dean, Joanne T.;
    • Kivity, Sara;
    • Mazarib, Aziz;
    • Neufeld, Miriam Y.;
    • Korczyn, Amos D.;
    • Harkin, Louise A.;
    • Dibbens, Leanne M.;
    • Wallace, Robyn H.;
    • Mulley, John C.;
    • Berkovic, Samuel F.
    Publication type:
    Article

  • Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2321, doi. 10.1002/ajmg.a.36055
    By:
    • Turner, Samantha J;
    • Hildebrand, Michael S.;
    • Block, Susan;
    • Damiano, John;
    • Fahey, Michael;
    • Reilly, SheENa;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E.;
    • Morgan, Angela T.
    Publication type:
    Article

  • GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 1073, doi. 10.1038/ng.2727
    By:
    • Carvill, Gemma L;
    • Regan, Brigid M;
    • Yendle, Simone C;
    • O'Roak, Brian J;
    • Lozovaya, Natalia;
    • Bruneau, Nadine;
    • Burnashev, Nail;
    • Khan, Adiba;
    • Cook, Joseph;
    • Geraghty, Eileen;
    • Sadleir, Lynette G;
    • Turner, Samantha J;
    • Tsai, Meng-Han;
    • Webster, Richard;
    • Ouvrier, Robert;
    • Damiano, John A;
    • Berkovic, Samuel F;
    • Shendure, Jay;
    • Hildebrand, Michael S;
    • Szepetowski, Pierre
    Publication type:
    Article

  • X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

    Published in:
    Nature Genetics, 2008, v. 40, n. 6, p. 776, doi. 10.1038/ng.149
    By:
    • Dibbens, Leanne M.;
    • Tarpey, Patrick S.;
    • Hynes, Kim;
    • Bayly, Marta A.;
    • Scheffer, Ingrid E.;
    • Smith, Raffaella;
    • Bomar, Jamee;
    • Sutton, Edwina;
    • Vandeleur, Lucianne;
    • Shoubridge, Cheryl;
    • Edkins, Sarah;
    • Turner, Samantha J.;
    • Stevens, Claire;
    • O'Meara, Sarah;
    • Tofts, Calli;
    • Barthorpe, Syd;
    • Buck, Gemma;
    • Cole, Jennifer;
    • Halliday, Kelly;
    • Jones, David
    Publication type:
    Article

  • Early neuroimaging markers of FOXP2 intragenic deletion.

    Published in:
    Scientific Reports, 2016, p. 35192, doi. 10.1038/srep35192
    By:
    • Liégeois, Frédérique J.;
    • Hildebrand, Michael S.;
    • Bonthrone, Alexandra;
    • Turner, Samantha J.;
    • Scheffer, Ingrid E.;
    • Bahlo, Melanie;
    • Connelly, Alan;
    • Morgan, Angela T.
    Publication type:
    Article

  • Epilepsy and mental retardation limited to females: an under-recognized disorder.

    Published in:
    Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 918, doi. 10.1093/brain/awm338
    By:
    • Ingrid E. Scheffer;
    • Samantha J. Turner;
    • Leanne M. Dibbens;
    • Marta A. Bayly;
    • Kathryn Friend;
    • Bree Hodgson;
    • Linda Burrows;
    • Marie Shaw;
    • Chen Wei;
    • Reinhard Ullmann;
    • Hans-Hilger Ropers;
    • Pierre Szepetowski;
    • Eric Haan;
    • Aziz Mazarib;
    • Zaid Afawi;
    • Miriam Y. Neufeld;
    • P. Ian Andrews;
    • Geoffrey Wallace;
    • Sara Kivity;
    • Dorit Lev
    Publication type:
    Article

  • Temporal lobe epilepsy and GEFS phenotypes associated with SCN1B mutations.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 1, p. 100
    By:
    • Ingrid E. Scheffer;
    • Louise A. Harkin;
    • Bronwyn E. Grinton;
    • Leanne M. Dibbens;
    • Samantha J. Turner;
    • Marta A. Zielinski;
    • Ruwei Xu;
    • Graeme Jackson;
    • Judith Adams;
    • Mary Connellan;
    • Steven Petrou;
    • R. Mark Wellard;
    • Regula S. Briellmann;
    • Robyn H. Wallace;
    • John C. Mulley;
    • Samuel F. Berkovic
    Publication type:
    Article

  • Looking to the Future: Speech, Language, and Academic Outcomes in an Adolescent with Childhood Apraxia of Speech.

    Published in:
    Folia Phoniatrica et Logopaedica, 2019, v. 71, n. 5/6, p. 203, doi. 10.1159/000500554
    By:
    • Turner, Samantha J.;
    • Vogel, Adam P.;
    • Parry-Fielder, Bronwyn;
    • Campbell, Rhonda;
    • Scheffer, Ingrid E.;
    • Morgan, Angela T.
    Publication type:
    Article