Results 161 to 170 of about 59,914 (190)

Advances in Zr-mediated radical transformations and applications to total synthesis. [PDF]

Beilstein J Org Chem
Ogawa H, Nakamura H.
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Caging the Chlorine Radical: Chemoselective Photocatalytic C(sp³)-H Functionalization Enabled by Terminal Cu-Cl Sites in a Metal-Organic Framework. [PDF]

J Am Chem Soc
Eaton MC, Ball AK, Doherty KE, Chen S, Nakamura DT, Azbell TJ, Kulik HJ, Milner PJ.   +7 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

Metal-free visible-light carbonylation of alkyl iodides to amides via consecutive photoinduced electron transfer. [PDF]

Chem Sci
Akhssas F, Chu G, El Malamy M, Illi N, Hertzog J, Vileno B, Le Breton N, Badawi M, Ponce-Vargas M, Gotico P, Vasseur A, Halime Z, Werlé C, Abdellah I.   +13 more
europepmc   +1 more source

Reaction Network and Kinetics Model for Neutral Hydrolysis of Poly(ethylene terephthalate). [PDF]

Ind Eng Chem Res
Pereira P, Guirguis PM, Pester CW, Savage PE.   +3 more
europepmc   +1 more source

Depolymerisation of γ-Valerolactone Organosolv Lignins with Unsupported Molybdenum-Based Catalysts. [PDF]

ChemSusChem
Känsäkoski S, Kasipandi S, Ohra-Aho T, Wirtanen T, Lehtonen J, Alonso DM, Vila F, Rautiainen S.   +7 more
europepmc   +1 more source

Catalytic Pyrolysis of Coconut Fiber with MgCl₂: Enhancing Thermal Degradation Kinetics and Product Selectivity. [PDF]

ACS Omega
Spirandeli ABL, Silvério B, de Lira TS, Xavier TP, da Luz MS, Santos KG.   +5 more
europepmc   +1 more source

Modular programming of interaction and geometric specificity enables assembly of complex DNA origami nanostructures. [PDF]

Nat Commun
Saha R, Hayakawa D, Videbæk TE, Price M, Wei WS, Pombo J, Duke D, Arya G, Grason GM, Rogers WB, Fraden S.   +10 more
europepmc   +1 more source