Results 21 to 30 of about 2,886,262 (322)

Muscle-Eye-Brain Disease [PDF]

open access: yesJournal of Clinical Neuromuscular Disease, 2010
ABSTRACT A term female infant was evaluated for global developmental delay, hypotonia, hyporeflexia, diffuse weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence of family history or perinatal concerns, an extensive investigation was performed, including lab studies ...
Anant M, Shenoy   +5 more
openaire   +2 more sources

Aquaporin and brain diseases [PDF]

open access: yesBiochimica et Biophysica Acta (BBA) - General Subjects, 2014
The presence of water channel proteins, aquaporins (AQPs), in the brain led to intense research in understanding the underlying roles of each of them under normal conditions and pathological conditions.In this review, we summarize some of the recent knowledge on the 3 main AQPs (AQP1, AQP4 and AQP9), with a special focus on AQP4, the most abundant AQP ...
Jérôme, Badaut   +3 more
openaire   +2 more sources

Why musical memory can be preserved in advanced Alzheimer's disease [PDF]

open access: yes, 2015
Musical memory is relatively preserved in Alzheimer's disease and other dementias. In a 7 Tesla functional MRI study employing multi-voxel pattern analysis, Jacobsen et al.
Chételat, Gael   +4 more
core   +2 more sources

Loss of intranetwork and internetwork resting state functional connections with Alzheimer\u27s disease progression [PDF]

open access: yes, 2012
Alzheimer\u27s disease (AD) is the most common cause of dementia. Much is known concerning AD pathophysiology but our understanding of the disease at the systems level remains incomplete.
Ances, Beau M   +8 more
core   +2 more sources

1st INCF Workshop on Genetic Animal Models for Brain Diseases [PDF]

open access: yes, 2011
The INCF Secretariat organized a workshop to focus on the “role of neuroinformatics in the processes of building, evaluating, and using genetic animal models for brain diseases” in Stockholm, December 13–14, 2009.
Holm Graessner, Olaf Riess
core   +2 more sources

Brain MRI in Parkinson's disease [PDF]

open access: yesFrontiers in Bioscience, 2014
In this review article, conventional brain MRI and advanced MRI techniques in Parkinson`s disease (PD) are discussed, with emphasis on clinical relevance. Conventional brain MRI sequences generally demonstrate limited abnormalities specific for PD and in clinical practice brain MRI is mainly used to exclude other pathology.
Meijer, F.J.A.   +3 more
openaire   +2 more sources

Calcium in the initiation, progression and as an effector of Alzheimer's disease pathology. [PDF]

open access: yes, 2009
The cause(s) of sporadic Alzheimer's disease (sAD) are complex and currently poorly understood. They likely result from a combination of genetic, environmental, proteomic and lipidomic factors that crucially occur only in the aged brain.
Green, Kim N
core   +1 more source

Exploiting the aggregation propensity of beta-lactamases to design inhibitors that induce enzyme misfolding

open access: yesNature Communications, 2023
There is an arms race between beta-lactam antibiotics development and co-evolving beta-lactamases, which provide resistance by breaking down beta-lactam rings.
Ladan Khodaparast   +13 more
doaj   +1 more source

Emergence of nonmotor symptoms as the focus of research and treatment of Parkinson's disease: Introduction to the special section on nonmotor dysfunctions in Parkinson's disease [PDF]

open access: yes, 2013
Parkinson's disease (PD) is traditionally characterized by the cardinal motor symptoms of tremor, rigidity, slowness of movement, and impairments of posture, gait, and balance.
Cronin-Golomb, Alice
core   +1 more source

Mapping the sequence specificity of heterotypic amyloid interactions enables the identification of aggregation modifiers

open access: yesNature Communications, 2022
In this work, Louros et al. uncover a rule book for interactions of amyloids with other proteins. This grammar was shown to promote cellular spreading of tau aggregates in cells, but can also be harvested to develop structure-based aggregation blockers.
Nikolaos Louros   +12 more
doaj   +1 more source

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