Results 51 to 60 of about 6,754 (244)

Clinical, MRI, and Genetic Findings in Batten Disease

Pediatric Neurology Briefs, 1998
The correlation of clinical, MRI and genetic factors in 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis) followed up for 25 years is reported from the Department of Paediatric Neurology, University of Helsinki, Finland, and
J Gordon Millichap
doaj   +1 more source

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Orphanet Journal of Rare Diseases, 2019
Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer   +7 more
doaj   +1 more source

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

The Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Batten Disease: Four Genes and Still Counting

Neurobiology of Disease, 1998
The neuronal ceroid lipofuscinoses (NCLs, also known as Batten disease) are the most common childhood neurodegenerative disease. They are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage ...
Sara E. Mole
doaj   +1 more source

A yeast model for the study of Batten disease [PDF]

Proceedings of the National Academy of Sciences, 1998
Although the CLN3 gene for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995, the function of the corresponding protein still remains elusive.
D A, Pearce, F, Sherman
openaire   +2 more sources

Establishment of Humanized EFNB2/B3 Murine Models for Investigating Nipah Virus Pathogenesis

Animal Research and One Health, EarlyView.
ABSTRACT Nipah virus (NiV) is a zoonotic paramyxovirus classified as a WHO priority pathogen, which causes severe respiratory disease and encephalitis in humans with high mortality. Currently, no licensed vaccines or specific antiviral therapies are available.
Wei Dong, Ning Liu, Weining Kong, Xiang Gao, Feifei Guan, Shan Gao, Yuanwu Ma   +6 more
wiley   +1 more source

Developing a critical caste analysis within information science and technology: A research review: An Annual Review of Information Science and Technology (ARIST) paper

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Caste—an ascriptive social hierarchy in South Asia and its diaspora—is a globalized phenomenon. Recent caste‐based discrimination, particularly in technology companies and anti‐caste efforts to address it, has compelled academia, policy, and the technology industry to better understand contemporary mechanics of caste.
Nayana Kirasur, Britt Paris
wiley   +1 more source

Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling

EMBO Reports
Batten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein.
Neuza Domingues, Alessia Calcagni’, Sofia Freire, Joana Pires, Ricardo Casqueiro, Ivan L Salazar, Niculin Joachim Herz, Tuong Huynh, Katarzyna Wieciorek, Tiago Fleming Outeiro, Henrique Girão, Ira Milosevic, Andrea Ballabio, Nuno Raimundo   +13 more
doaj   +1 more source