Results 111 to 120 of about 638,325 (347)

Local Decoders for the 2D and 4D Toric Code

, 2016
We analyze the performance of decoders for the 2D and 4D toric code which are local by construction. The 2D decoder is a cellular automaton decoder formulated by Harrington which explicitly has a finite speed of communication and computation. For a model
Breuckmann, Nikolas P., Duivenvoorden, Kasper, Michels, Dominik, Terhal, Barbara M.   +3 more
core  

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. [PDF]

, 2020
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia.
Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco JC, de Zubicaray, Greig I, de Zwarte, Sonja MC, Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A, Gústafsson, Ómar, Haavik, Jan, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hellard, Stephanie Le, Hibar, Derrek P, Hillegers, Manon HJ, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Håberg, Asta, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma EM, Kolskår, Knut K, Kwok, John B, Leu, Costin, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J, Martin, Nicholas G, Martin-Brevet, Sandra, Mather, Karen, Mathias, Samuel R, McCormack, Mark, McMahon, Katie L, McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Murray, Robin, Mühleisen, Thomas W, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Sønderby, Ida E   +99 more
core   +1 more source

Visual Attention in West Syndrome

Pediatric Neurology Briefs, 2002
The maturation of visual attention is evaluated prospectively in a study of infants with West syndrome (WS) before, during and after the onset of seizures, followed until age 24 +/- 2 months at Catholic University, Rome, and University of Pisa, Italy.
J Gordon Millichap
doaj   +1 more source

Case Report of Tuberous Sclerosis with early West Syndrome

, 2021
Ludmila Sandy Alves Moura, André Taumaturgo Cavalcanti Arruda, Mário Luciano de Melo Silva Júnior   +2 more
openalex   +1 more source

Novel Use of a Social-Media-Based Survey to Detect Regional Differences in Management of Monochorionic-Diamniotic Twins. [PDF]

, 2020
ObjectiveThis study aims to evaluate the utility of social media to distribute a patient survey on differences in management and outcomes of monochorionic-diamniotic (MCDA) pregnancies.Study designA cross-sectional survey was posted to an English ...
Afshar, Yalda, Han, Christina S, Holliman, Kerry, Kwan, Lorna, Liu, Hui, Paek, Bettina, Platt, Lawrence D, Pluym, Ilina D, Rao, Rashmi, Scibetta, Emily, Walker, Martin, Wong, Thalia   +11 more
core  

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? [PDF]

, 2014
Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.
Donaldson, Malcolm, Giacomozzi, Claudio, Lucaccioni, Laura, Schwahn, Bernd C   +3 more
core   +3 more sources

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Combination Therapy With Vigabatrin and Prednisolone Versus Vigabatrin Alone for Infantile Spasms

Annals of Clinical and Translational Neurology
Objective The study evaluated the effectiveness of combination therapy with vigabatrin and prednisolone versus vigabatrin alone for treating infantile epileptic spasms syndrome (IESS).
Rachata Boonkrongsak, Kantapon Trongkamolchai, Sirorat Suwannachote, Somjit Sri‐Udomkajorn, Raviwan Wittawassamrankul, Ravindra Arya, Kullasate Sakpichaisakul   +6 more
doaj   +1 more source

Aetiological aspects of west syndrome

Srpski arhiv za celokupno lekarstvo, 2006
INTRODUCTION. West Syndrome involves epileptic encephalopathy in infants, occurring with an incidence of 5/10000 live births. Its main clinical feature are spasms that occur in clusters, which are associated with an EEG pattern called hypsarrhythmia and psychomotor retardation in most patients.
Borivoj, Marjanović, Milena, Durić, Dragan, Zamurović, Ruzica, Kravljanac, Gordana, Vlahović, Dijana, Komazec   +5 more
openaire   +2 more sources

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source