Institution
University of Cagliari
Education•Cagliari, Italy•
About: University of Cagliari is a education organization based out in Cagliari, Italy. It is known for research contribution in the topics: Population & Dopamine. The organization has 11029 authors who have published 29046 publications receiving 771023 citations. The organization is also known as: Università degli Studi di Cagliari & Universita degli Studi di Cagliari.
Topics: Population, Dopamine, Dopaminergic, Context (language use), Medicine
Papers published on a yearly basis
Papers
More filters
••
TL;DR: It is suggested that abnormalities of alpha-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C, which is mapped to human chromosome 19q13.
Abstract: The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy. Structural brain defects, with or without mental retardation, are additional features of several CMD syndromes. Approximately 40% of patients with CMD have a primary deficiency (MDC1A) of the laminin α2 chain of merosin (laminin-2) due to mutations in the LAMA2 gene. In addition, a secondary deficiency of laminin α2 is apparent in some CMD syndromes, including MDC1B, which is mapped to chromosome 1q42, and both muscle-eye-brain disease (MEB) and Fukuyama CMD (FCMD), two forms with severe brain involvement. The FCMD gene encodes a protein of unknown function, fukutin, though sequence analysis predicts it to be a phosphoryl-ligand transferase. Here we identify the gene for a new member of the fukutin protein family (fukutin related protein [FKRP]), mapping to human chromosome 19q13.3. We report the genomic organization of the FKRP gene and its pattern of tissue expression. Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function. Affected individuals had a secondary deficiency of laminin α2 expression. In addition, they had both a marked decrease in immunostaining of muscle α-dystroglycan and a reduction in its molecular weight on western blot analysis. We suggest these abnormalities of α-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C.
562 citations
••
TL;DR: A detailed account of the latest results of metal-based drugs and their potential uses in the cure of severe diseases is provided and the number of published studies in this field is huge.
560 citations
••
TL;DR: In contrast with amphetamine, cocaine, phencyclidine and nomifensine increase synaptic dopamine concentrations in vivo by a mechanism which depends on intact activity of dopaminergic neurons and by an exocytotic process, which is insensitive to these manipulations.
560 citations
••
TL;DR: In this paper, a general theory is developed which provides explicit criteria for the choice of the operating conditions of simulated moving bed (SMB) units to achieve the prescribed separation of a mixture characterized by both constant selectivity Langmuir isotherms and variable selectivity modified LSHs.
559 citations
••
TL;DR: A role in associative stimulus-reward learning can provide an explanation for the extinction-like impairment of primary reinforcement that led Wise to propose the "anhedonia hypothesis" as mentioned in this paper, where addictive drugs share with natural rewards the property of stimulating dopamine transmission preferentially in the nucleus accumbens shell.
556 citations
Authors
Showing all 11160 results
Name | H-index | Papers | Citations |
---|---|---|---|
Herbert W. Marsh | 152 | 646 | 89512 |
Michele Parrinello | 133 | 637 | 94674 |
Dafna D. Gladman | 129 | 1036 | 75273 |
Peter J. Anderson | 120 | 966 | 63635 |
Alessandro Vespignani | 118 | 419 | 63824 |
C. Patrignani | 117 | 1754 | 110008 |
Hermine Katharina Wöhri | 116 | 629 | 55540 |
Francesco Muntoni | 115 | 963 | 52629 |
Giancarlo Comi | 109 | 961 | 54270 |
Giorgio Parisi | 108 | 941 | 60746 |
Luca Benini | 101 | 1453 | 47862 |
Alessandro Cardini | 101 | 1288 | 53804 |
Nicola Serra | 100 | 1042 | 46640 |
Jurg Keller | 99 | 389 | 35628 |
Giulio Usai | 97 | 517 | 39392 |