Results 61 to 70 of about 359,410 (318)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Atmospheric infancy.

Qualitative Psychology, 2021
In this article we establish intersubjective meaning-making in infancy as atmospheric. Through qualitative descriptions of five mother–infant dyads in a video-recorded, experimental setting when the infant is 4, 7, 10, and 13 months, we discovered atmospheric appearances with a developmental pattern of atmospheric variations.
Tone Roald, Ida Egmose Pedersen, Kasper Levin, Simo Køppe   +3 more
openaire   +4 more sources

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

The goal trumps the means: Highlighting goals is more beneficial than highlighting means in means‐end training [PDF]

, 2013
Item does not contain fulltextMeans-end actions are an early-emerging form of problem solving. These actions require initiating initial behaviors with a goal in mind.
Woodward, Amanda L., Woodward, A.L., Gerson, Sarah, Gerson, Sarah. A., Gerson, S.A., Woodward, Amanda   +5 more
core   +1 more source

Presenilins in their infancy

Chemistry & Biology, 1999
Familial forms of Alzheimer's disease are caused by mutations in the genes encoding the presenilins, which are integral membrane proteins. Presenilins have been shown to interact with beta-amyloid precursor proteins and Notch receptors. Several recent studies have examined the role of presenilins in Notch processing.
openaire   +2 more sources

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Subacute sclerosing panencephalitis should be eliminated by measles vaccination

Human Vaccines & Immunotherapeutics, 2017
1 patient with SSPE at 4 y. He had had measles and measles encephalitis at 7.5 months. In China, the first and the second measles immunizations are recommended at 8 months and at 18–24 months, respectively.
Wei–Liang Liu, Zhi–Xu He, Fang Li, Dian He, Rong Ai   +4 more
doaj   +1 more source

ADENOIDS IN INFANCY. [PDF]

JAMA: The Journal of the American Medical Association, 1907
While the frequency and importance of adenoids in childhood is well recognized and their symptomatology pretty generally understood, this is not the case as regards adenoids in infancy. These are supposed to be uncommon and of little importance, and their symptoms are commonly overlooked or misinterpreted.
openaire   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source