Results 61 to 70 of about 178,485 (305)
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez +18 morewiley +1 more sourceNovel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]
, 2018 Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.Andreasen, Tara S, Lamale-Smith, Leah M, Mao, Rong, Melber, Dora J, Miller, Christine E, Moore, Thomas R, Tvrdik, Tatiana, Woelkers, Douglas A +7 morecore The driver landscape of sporadic chordoma. [PDF]
, 2017 Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T)Alexandrov, Ludmil B, Amary, M Fernanda, Bashashati, Ali, Baumhoer, Daniel, Behjati, Sam, Brandner, Sebastian, Butler, Adam P, Campbell, Peter J, Cogswell, Patricia, Dickson, Brendan, Farndon, Sarah J, Flanagan, Adrienne M, Futreal, P Andrew, Guzzo, Charlotte, Hardy, Claire, Huntsman, David, Jamshidi, Farzad, Latimer, Calli, Martincorena, Inigo, Nielsen, Torsten O, Phillips, Joanna J, Pillay, Nischalan, Shah, Sohrab, Shlien, Adam, Sommer, Josh, Stratton, Michael R, Tarpey, Patrick S, Teague, Jon W, Tirabosco, Roberto, Wunder, Jay, Yip, Stephen, Young, Matthew D +31 morecore +2 more sourcesA Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici +95 morewiley +1 more sourceWhole-exome sequencing of a pedigree segregating asthma
BMC Medical Genetics, 2012 Background Despite the success of genome-wide association studies for asthma, few, if any, definitively causal variants have been identified and there is still a substantial portion of the heritability of the disease yet to be discovered.DeWan Andrew T, Egan Kathryn Brigham, Hellenbrand Karen, Sorrentino Keli, Pizzoferrato Nicole, Walsh Kyle M, Bracken Michael B +6 moredoaj +1 more sourceSignal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]
, 2015 Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...Anderson, G, Cale, CM, Chalasani, A, Chan, E, Duchen, MR, Gilmour, KC, Hambleton, S, Jacques, S, Osellame, LD, Plagnol, V, Qasim, W, Rahman, S, Shahni, R, Taanman, JW, Wadatilake, Y +14 morecore +1 more sourceCost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
npj Genomic Medicine, 2017 Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady +12 moredoaj +1 more sourceResistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. [PDF]
, 2019 We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset.A Butler, A Lalazar, A Llado, Aaron P. Schultz, Ana Baena, Arabiye Artola, AS Fleisher, Claudia Marino, D Smedley, Daniel J. Norton, David Aguillon, David Leyton-Cifuentes, DC Aguirre-Acevedo, Dhanesh Amarnani, DM Walsh, DT Chien, E Hudry, EC Mormino, Edmarie Guzmán-Vélez, EH Corder, Enmanuelle Pardilla-Delgado, Eric M. Reiman, Francisco Lopera, Gyungah R. Jun, H Braak, H Braak, Henrik Zetterberg, J Logan, JA Becker, Ji Luo, JI Velez, Jianling Ji, JN Rauch, John B. Miller, Joseph F. Arboleda-Velasquez, Juliana Acosta-Uribe, Justin S. Sanchez, KA Johnson, Kahira L. Saez-Torres, Kaj Blennow, Keith A. Johnson, Kenneth S. Kosik, Kewei Chen, L Wang, L Zhong, Leo A. Kim, Lishuang Shen, M Futamura, M Gisslén, MA Lalli, Marcus Naymik, Margarita Giraldo, Matthew J. Huentelman, Matthew Lalli, Michael O’Hare, Moiz Bootwalla, MR Wardell, N Acosta-Baena, Natalia Chmielewska, O Preische, Pierre N. Tariot, Pradeep Thiyyagura, Rebecca A. Reiman, Reisa A. Sperling, RW Mahley, S Fisher, S Thordardottir, Santiago Delgado-Tirado, Silvia Rios-Romenets, T Hashimoto, T Hashimoto, T Hedden, TM Shoup, WD Knight, Xiaowu Gai, Y Yamauchi, Yakeel T. Quiroz, Yi Su, Yinghua Chen, YT Quiroz +79 morecore +3 more sourcesWhole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD [PDF]
, 2023 Claudia Strafella, Valerio Caputo, Sara Bortolani, Eleonora Torchia, Domenica Megalizzi, Giulia Trastulli, Mauro Monforte, Luca Colantoni, Carlo Caltagirone, Enzo Ricci, Giorgio Tasca, Raffaella Cascella, Emiliano Giardina +12 moreopenalex +1 more source
