Results 161 to 170 of about 16,805,949 (306)
Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos +22 morewiley +1 more sourceReinforcement learning control of quantum error correction. [PDF]
NatureSivak V, Morvan A, Broughton M, Cortiñas RG, Bausch J, Senior AW, Neeley M, Eickbusch A, Shutty N, Beni LA, Spencer JS, Heras FJ, Edlich T, Abanin D, Abbas A, Acharya R, Aigeldinger G, Alcaraz R, Alcaraz S, Andersen TI, Ansmann M, Arute F, Arya K, Askew W, Astrakhantsev N, Atalaya J, Ballard B, Bardin JC, Bates H, Bengtsson A, Karimi MB, Bilmes A, Bilodeau S, Borjans F, Bourassa A, Bovaird J, Bowers D, Brill L, Brooks P, Browne DA, Buchea B, Buckley BB, Burger T, Burkett B, Bushnell N, Busnaina J, Cabrera A, Campero J, Chang HS, Chen S, Chiaro B, Chih LY, Cleland AY, Cochrane B, Cockrell M, Cogan J, Collins R, Conner P, Cook H, Courtney W, Crook AL, Curtin B, Damyanov M, Das S, Debroy DM, Demura S, Donohoe P, Drozdov I, Dunsworth A, Ehimhen V, Elbag AM, Ella L, Elzouka M, Enriquez D, Erickson C, Ferreira VS, Flores M, Burgos LF, Forati E, Ford J, Fowler AG, Foxen B, Fukami M, Fung AWL, Fuste L, Ganjam S, Garcia G, Garrick C, Gasca R, Gehring H, Geiger R, Genois É, Giang W, Gilboa D, Goeders JE, Gonzales EC, Gosula R, de Graaf SJ, Dau AG, Graumann D, Grebel J, Greene A, Gross JA, Guerrero J, Le Guevel L, Ha T, Habegger S, Hadick T, Hadjikhani A, Hamilton MC, Harrigan MP, Harrington SD, Hartshorn J, Heslin S, Heu P, Higgott O, Hiltermann R, Huang HY, Hucka M, Hudspeth C, Huff A, Huggins WJ, Jeffrey E, Jevons S, Jiang Z, Jin X, Joshi C, Juhas P, Kabel A, Kafri D, Kang H, Kang K, Karamlou AH, Kaufman R, Kechedzhi K, Khattar T, Khezri M, Kim S, Knaut CM, Kobrin B, Kostritsa F, Kreikebaum JM, Kudo R, Kueffler B, Kumar A, Kurilovich VD, Kutsko V, Lacroix N, Landhuis D, Lange-Dei T, Langley BW, Laptev P, Lau KM, Ledford J, Lee J, Lee K, Lester BJ, Leung W, Li L, Li WY, Li M, Lill AT, Livingston WP, Lloyd MT, Locharla A, De Lorenzo L, Lundahl D, Lunt A, Madhuk S, Maiti A, Maloney A, Mandrá S, Martin LS, Martin O, Mascot E, Das PM, Maslov D, Mathews M, Maxfield C, McClean JR, McEwen M, Meeks S, Miao KC, Minev ZK, Molavi R, Molina S, Montazeri S, Neill C, Newman M, Nguyen A, Nguyen M, Ni CH, Niu MY, Oas L, Orosco R, Ottosson K, Pagano A, Paolo AD, Peek S, Peterson D, Pizzuto A, Portoles E, Potter R, Pritchard O, Qian M, Quintana C, Ranadive A, Reagor MJ, Resnick R, Rhodes DM, Riley D, Roberts G, Rodriguez R, Ropes E, De Rose LB, Rosenberg E, Rosenfeld E, Rosenstock D, Rossi E, Roushan P, Rower DA, Salazar R, Sankaragomathi K, Sarihan MC, Satzinger KJ, Schaefer M, Schroeder S, Schurkus HF, Shahingohar A, Shearn MJ, Shorter A, Shvarts V, Small S, Smith WC, Sobel DA, Spells B, Springer S, Sterling G, Suchard J, Szasz A, Sztein A, Taylor M, Thiruraman JP, Thor D, Timucin D, Tomita E, Torres A, Torunbalci MM, Tran H, Vaishnav A, Vargas J, Vdovichev S, Vidal G, Heidweiller CV, Voorhees M, Waltman S, Waltz J, Wang SX, Ware B, Watson JD, Wei Y, Weidel T, White T, Wong K, Woo BWK, Wood CJ, Woodson M, Xing C, Yao ZJ, Yeh P, Ying B, Yoo J, Yosri N, Young E, Young G, Zalcman A, Zhang R, Zhang Y, Zhu N, Zobrist N, Zou Z, Babbush R, Bacon D, Boixo S, Chen Y, Chen Z, Devoret M, Hansen M, Hilton J, Jones C, Kelly J, Korotkov AN, Lucero E, Megrant A, Neven H, Oliver WD, Ramachandran G, Smelyanskiy V, Klimov PV. +298 moreeuropepmc +1 more sourceAxial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai +52 morewiley +1 more sourceExperimentally validated deep learning control of protein aggregation. [PDF]
Commun ChemCima V, Kunka A, Planas-Iglesias J, Grakova E, Havlasek M, Subramanian M, Beloch M, Marek M, Slaninova K, Damborsky J, Prokop Z, Bednar D, Martinovic J. +12 moreeuropepmc +1 more sourceParkinson Disease Subtype Stability and Eventual Convergence
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell +10 morewiley +1 more source