Results 221 to 230 of about 1,208,876 (310)

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational study. [PDF]

EClinicalMedicine
Cicala G, Capasso A, Villa M, Coratti G, Arpaia C, Agosto C, Corti S, Ricci F, Bruno C, Matesanz S, Gross B, Mendoza DG, Kuntz N, Kirschner J, Ziegler A, Servais L, Asselman FL, van der Pol L, Castiglioni C, Nascimiento A, Tizzano EF, Mendonça RH, Zanoteli E, Munot P, Scoto M, Finkel R, Pane M, Tiziano FD, Mercuri E, ITASMAc group, International SMA group.   +30 more
europepmc   +1 more source

Copying theorems

Information Processing Letters, 1976
Engelfriet, Joost, Skyum, Sven
openaire   +4 more sources

Guiding Opinions on Establishing and Improving the Joint Incentive System for Trustworthiness and Joint Disciplinary System for Untrustworthiness (2016) [PDF]

, 2016
China Copy Right and Media
core  

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Chromatin condensation dynamics during spermatogenesis and variation in detectability and spatial distribution of satellite DNAs outside constitutive heterochromatin in <i>Tenebrio molitor</i>. [PDF]

Front Insect Sci
Majcen P, Šatović-Vukšić E.
europepmc   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

The Impact of <i>pfmdr1</i> Gene Copy Number on the Efficacy of Dihydroartemisinin-Piperaquine in Treating Malaria in West Sumba and Kupang Districts, East Nusa Tenggara, Indonesia. [PDF]

J Parasitol Res
Irdayanti I, Aswad H, Asih PBS, Rozi IE, Herdiana H, Diptyanusa A, Prameswari HD, Yusuf Y, Bahrani B, Hidayah N, Artika IM, Syafruddin D.   +11 more
europepmc   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Les multiples : une définition du champ de recherche et un cas particulier, les « doubles »

Perspective, 2019
Walter Cupperi
doaj   +1 more source

Genome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report. [PDF]

Medicine (Baltimore)
Azher Z, Alsabban M, Ali LA, Naffadi H, Ekram S, Obaid R.   +5 more
europepmc   +1 more source