Results 211 to 220 of about 366,637 (312)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Analysis of curing effect of bulk curing barns with different types of biomass combustion equipment. [PDF]

Sci Rep
Wu S, Xu Q, Gou J, Shen C, Zhao C, Jiang S, Lou Y, Song C, Jing X, Wang J, Mo J, Cao G.   +11 more
europepmc   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay. [PDF]

Clin Case Rep
Al-Badri SG, Duhan A, Al-Taie RH, Al Gehadi MYH, Khalil I.   +4 more
europepmc   +1 more source

1929 list of gladiolus bulbs /

, 1929
J. H. Wheeler (Firm), Henry G. Gilbert Nursery and Seed Trade Catalog Collection.   +1 more
openalex   +2 more sources

The Epidemiology of Primary Lateral Sclerosis: Results from a Population‐Based Cohort

Annals of Neurology, EarlyView.
Objective In this population‐based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS).
Rosario Vasta, Enrico Matteoni, Giorgio Pellegrino, Antonio Canosa, Umberto Manera, Francesca Palumbo, Maurizio Grassano, Sara Cabras, Alessandra Maccabeo, Fabrizio D'Ovidio, Gabriele Mora, Salvatore Gallone, Elisa D'Angelo, Letizia Mazzini, Fabiola De Marchi, Cristina Moglia, Adriano Chiò, Andrea Calvo   +17 more
wiley   +1 more source

Disparity of turbinal bones in placental mammals

The Anatomical Record, EarlyView.
Abstract Turbinals are key bony elements of the mammalian nasal cavity, involved in heat and moisture conservation as well as olfaction. While turbinals are well known in some groups, their diversity is poorly understood at the scale of placental mammals, which span 21 orders.
Quentin Martinez, Mark Wright, Benjamin Dubourguier, Kai Ito, Thomas van de Kamp, Elias Hamann, Marcus Zuber, Gabriel Ferreira, Rémi Blanc, Pierre‐Henri Fabre, Lionel Hautier, Eli Amson   +11 more
wiley   +1 more source

Editorial: Organ Modification for Edible Parts of Horticultural Crops

Frontiers in Plant Science, 2019
Yuke He, Guusje Bonnema, Han Xiao, Yunde Zhao   +3 more
doaj   +1 more source

Odor Experience Stabilizes Glomerular Output Representations in Two Mouse Models of Autism. [PDF]

eNeuro
Sturm KL, Semak D, Scheier ZA, Ramos RL, Otazu GH.   +4 more
europepmc   +1 more source

Rapid Feedforward Inhibition and Asynchronous Excitation Regulate Granule Cell Activity in the Mammalian Main Olfactory Bulb [PDF]

, 2015
Shawn D. Burton, Nathaniel N. Urban
openalex   +1 more source