Results 51 to 60 of about 135,135 (309)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Effect of chronic stress in newborn rats on the progression of ligature-induced-periodontitis in adulthood [PDF]

Acta Cirúrgica Brasileira, 2013
PURPOSE: To investigate the effect chronic stress in newborn rats on the progression of ligature-induced-periodontitis in adulthood. METHODS: Ten couples of adult Wistar rats were selected for mating.
Tereza Aparecida Delle Vedove Semenoff, Aurélio Rosa Júnior, Álvaro Henrique Borges, Alessandra Nogueira Porto, Cervantes Caporossi, Alex Semenoff Segundo   +5 more
doaj   +1 more source

Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]

, 2009
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
core   +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

Small-sized newborn dogs skeletal development: radiologic, morphometric, and histological findings obtained from spontaneously dead animals [PDF]

, 2017
Background: Very little is known about neonatal skeletal development in small-sized purebred dogs. In order to improve this knowledge, 27 spontaneously dead puppies belonging to small-sized breeds were enrolled in this study for radiologic ...
M. Moioli, G. Lodi, Bronzo, V, T. Meloni, Di Giancamillo, M, Moioli, Melania, M.C. Veronesi, Modina, S C, V. Bronzo, M. Di Giancamillo, S.C. Modina, Veronesi, M C, Lodi, G, S. C. Modina, Meloni, T   +14 more
core   +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

Morphological and Morphometric Parameters of the Liver of Newborn Male Rabbits Alexander

Ветеринарная патология
Introduction. At present, the study of age-related issues of the liver structure in animals is one of the most important objectives of morphology, since liver diseases occupy one of the leading places among the nosologies causing death of newborn animals,
A. M. Manakov, S. M. Zavaleeva
doaj   +1 more source

Investigation of biochemical and physiological parameters of the newborn Saiga antelope (Saiga tatarica) in Gansu Province, China.

PLoS ONE, 2019
BACKGROUND:The Saiga antelope (Saiga tatarica) is a critically endangered species, and there has been limited success in restoring the population by captive breeding.
Xia Liu, James Blackar Mawolo, Xiaohua Du, Yingjie Zhou, Haifang Wang, Fayang Liu, Zhiqing He, Haqi Astika Marela   +7 more
doaj   +1 more source

BRONCHOPULMONARY ANASTOMOSES IN FŒETAL, NEWBORN AND ADULT ANIMALS [PDF]

Quarterly Journal of Experimental Physiology and Cognate Medical Sciences, 1966
Anastomoses between the bronchial and pulmonary arteries were studied by means of neoprene casts and by injection of a radiopaque substance or dyes. In fœtal lambs and newborn kittens and puppies there were numerous precapillary connections between the two arterial systems, the bronchial arteries appearing as branches of the pulmonary artery.
openaire   +2 more sources

Identification methods in newborn C57BL/6 mice: a developmental and behavioural evaluation

The use of group-housed rodents in many fields of biomedical research imposes a need to identify individuals in a cage. Few studies have been designed to assess possible negative effects of identification methods of newborn mice on their development and ...
Baumans, V., N Sousa, F Ohl, Emotion and Cognition, Ohl, F., M J Castelhano-Carlos, Sousa, Nuno, Castelhano-Carlos, M.J., V Baumans, Sousa, N., Dep of Animals in Science and Society, Castelhano-Carlos, Magda João   +11 more
core   +1 more source