Results 291 to 300 of about 4,183,748 (324)

Empowering young minds through STEM education: Engaging high schoolers in Ghana through medical physics

Journal of Applied Clinical Medical Physics, EarlyView.
Abstract Purpose To promote diversity in Science, Technology, Engineering, and Mathematics (STEM), an educational presentation and hands‐on session was organised to raise awareness of STEM career opportunities among high school girls to introduce the students to the field of medical physics. Materials and Methods The study involved 65 first‐year Senior
Afua A. Yorke, Mercy T. Schandorf, Abigail N. M. Quaye, Peniel Tenkorama Twum, Bishwambhar Sengupta, Kwadwo Nkansah‐Poku, Juliana A. Kplorfia, Jessica Fagestrom   +7 more
wiley   +1 more source

Enoxaparin Failure in Patient With Cerebral Venous Sinus Thrombosis and Prothrombin G20210A Mutation: Case Report. [PDF]

Neurologist
Polavarapu A, Bhushan A, Duarte-Celada W, Windisch T, Bhushan B.   +4 more
europepmc   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Author Correction: Synaptotagmin-7 outperforms synaptotagmin-1 to promote the formation of large, stable fusion pores via robust membrane penetration. [PDF]

Nat Commun
Courtney KC, Mandal T, Mehta N, Wu L, Li Y, Das D, Cui Q, Chapman ER.   +7 more
europepmc   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Real-world evidence couples genomic biomarkers with therapeutic outcomes for canine hemangiosarcoma. [PDF]

Sci Rep
Rodrigues L, Wu K, Harvey G, Post G, Miller A, Hull A, Lambert L, Lopes C, Zou J.   +8 more
europepmc   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma. [PDF]

Nat Commun
Wong K, Bishop JA, Weinreb I, Motta M, Del Castillo Velasco-Herrera M, Bellacchio E, Ferreira I, van der Weyden L, Boccacino JM, Lauri A, Rotundo G, Ciolfi A, Cheema S, Olvera-León R, Offord V, Droop A, Vermes I, Allgäuer M, Hyrcza M, Anderson E, Smith K, de Saint Aubain N, Mogler C, Stenzinger A, Arends MJ, Brenn T, Tartaglia M, Adams DJ.   +27 more
europepmc   +1 more source

Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi, Carla Franch‐Marti, Iñigo Ruiz‐Barrio, Frederic Sampedro, Jesus Perez‐Perez, Jordi A. Matias‐Guiu, Fernando Cuetos, Gonzalo Olmedo‐Saura, Laura Perez‐Carasol, Andrea Horta‐Barba, Ignacio Aracil‐Bolaños, Javier Pagonabarraga, Jaime Kulisevsky, Saul Martinez‐Horta   +13 more
wiley   +1 more source