Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

Autor: Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M. Bhatt, Caterina Caputi, Emilia Cirillo, David J. Coman, Gregor Dückers, Donald L. Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L. Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler‐Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P. Whitehouse, Robert A. Dineen

Publikováno v: Cancer Medicine, Vol 12, Iss 13, Pp 14663-14673 (2023)

Abstract Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A�

Externí odkaz: https://doaj.org/article/4112859666704ce9a8573dfbcefab340

Synaptic processes and immune-related pathways implicated in Tourette syndrome

Autor: Fotis Tsetsos, Dongmei Yu, Jae Hoon Sul, Alden Y. Huang, Cornelia Illmann, Lisa Osiecki, Sabrina M. Darrow, Matthew E. Hirschtritt, Erica Greenberg, Kirsten R. Muller-Vahl, Manfred Stuhrmann, Yves Dion, Guy A. Rouleau, Harald Aschauer, Mara Stamenkovic, Monika Schlögelhofer, Paul Sandor, Cathy L. Barr, Marco A. Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Anke Hinney, Robert A. King, Thomas V. Fernandez, Csaba Barta, Zsanett Tarnok, Peter Nagy, Christel Depienne, Yulia Worbe, Andreas Hartmann, Cathy L. Budman, Renata Rizzo, Gholson J. Lyon, William M. McMahon, James R. Batterson, Danielle C. Cath, Irene A. Malaty, Michael S. Okun, Cheston Berlin, Douglas W. Woods, Paul C. Lee, Joseph Jankovic, Mary M. Robertson, Donald L. Gilbert, Lawrence W. Brown, Barbara J. Coffey, Andrea Dietrich, Pieter J. Hoekstra, Samuel Kuperman, Samuel H. Zinner, Michael Wagner, James A. Knowles, A. Jeremy Willsey, Jay A. Tischfield, Gary A. Heiman, Nancy J. Cox, Nelson B. Freimer, Benjamin M. Neale, Lea K. Davis, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Peristera Paschou, on behalf of the Tourette Association of America International Consortium for Genetics, Sabrina Darrow, Roger Kurlan, James F. Leckman, Jan H. Smit, the Gilles de la Tourette GWAS Replication Initiative, Harald Aschauer Harald Aschauer, Anastasios Konstantinidis, Kirsten Müller-Vahl, Tomasz Wolanczyk, the Tourette International Collaborative Genetics Study, Lawrence Brown, Keun-Ah Cheon, Blanca Garcia-Delgar, Donald Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Bennett L. Leventhal, Marcos Madruga-Garrido, Pablo Mir, Astrid Morer, Alexander Münchau, Kerstin J. Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Samuel Zinner, and the Psychiatric Genomics Consortium Tourette Syndrome Working Group, Thomas Fernandez, Gary Heiman, Pieter Hoekstra, Jay Tischfield, Douglas Woods

Publikováno v: Translational Psychiatry, Vol 11, Iss 1, Pp 1-12 (2021)

Abstract Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis

Externí odkaz: https://doaj.org/article/1e03ee514141459ab171b2316307b113

EEG Correlates of Active Stopping and Preparation for Stopping in Chronic Tic Disorder

Autor: Alonso Zea Vera, Ernest V. Pedapati, Travis R. Larsh, Kevin Kohmescher, Makoto Miyakoshi, David A. Huddleston, Hannah S. Jackson, Donald L. Gilbert, Paul S. Horn, Steve W. Wu

Publikováno v: Brain Sciences, Vol 12, Iss 2, p 151 (2022)

Motor inhibition is an important cognitive process involved in tic suppression. As the right frontal lobe contains important inhibitory network nodes, we characterized right superior, middle, and inferior frontal gyral (RSFG, RMFG, RIFG) event-relate

Externí odkaz: https://doaj.org/article/76accd6bf52a486abe922febb4721252

The spectrum of functional tic‐like behaviours: Data from an international registry

Autor: Davide Martino, Tammy Hedderly, Tara Murphy, Kirsten R. Müller‐Vahl, Russell C. Dale, Donald L. Gilbert, Renata Rizzo, Andreas Hartmann, Peter Nagy, Mathieu Anheim, Tamsin Owen, Osman Malik, Morvwen Duncan, Isobel Heyman, Holan Liang, Andrew McWilliams, Shauna O'Dwyer, Carolin Fremer, Natalia Szejko, Velda X. Han, Kasia Kozlowska, Tamara M. Pringsheim

Publikováno v: European Journal of Neurology. 30:334-343

Between 2019 and 2022, there was a marked rise in adolescents/young adults seeking urgent help for functional tic-like behaviours (FTLBs). Given the global scale of this phenomenon, we aimed to pool cases from different institutions in an internation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa13253b66f04fc0cda5e2b40f65d20
https://doi.org/10.1111/ene.15611

Deep Brain Stimulation for Pediatric Dystonia: A Review of the Literature and Suggested Programming Algorithm

Autor: Rose Gelineau-Morel, Michael C. Kruer, Jordan F. Garris, Amal Abu Libdeh, Daniel A. N. Barbosa, Keith A. Coffman, David Moon, Christopher Barton, Alonso Zea Vera, Adrienne B. Bruce, Travis Larsh, Steve W. Wu, Donald L. Gilbert, Jennifer A. O’Malley

Publikováno v: J Child Neurol

Deep brain stimulation (DBS) is an established intervention for use in pediatric movement disorders, especially dystonia. Although multiple publications have provided guidelines for deep brain stimulation patient selection and programming in adults,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a1f525430984cb82f039f19b6d3defd
https://doi.org/10.1177/08830738221115248