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Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria
Background: PSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, haveExpand
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Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells
Hair cells of the inner ear are mechanosensors that transduce mechanical forces arising from sound waves and head movement into electrochemical signals to provide our sense of hearing and balance.Expand
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Cadherin 23 is a component of the tip link in hair-cell stereocilia
Mechanoelectrical transduction, the conversion of mechanical force into electrochemical signals, underlies a range of sensory phenomena, including touch, hearing and balance. Hair cells of theExpand
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Mutations in SDHC cause autosomal dominant paraganglioma, type 3
Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest–derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted asExpand
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Genetic parameters of growth and wood quality traits in Picea abies
Genetic parameters were estimated for wood and growth traits in two 19-yr-old clonal trials and a 40-yr-old full-sib progeny trial of Norway spruce [Picea abies (L.) Karst.]. In the clonal trialsExpand
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Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy
Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which isExpand
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A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of craniosynostosis has beenExpand
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An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
Congenital muscular dystrophy is a heterogeneous and severe, progressive muscle-wasting disease that frequently leads to death in early childhood. Most cases of congenital muscular dystrophy areExpand
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Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells
Hair cells have highly organized bundles of apical projections, or stereocilia, that are deflected by sound and movement. Displacement of stereocilia stretches linkages at the tips of stereociliaExpand
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The Adaptive Digit Ordering Test: clinical application, reliability, and validity of a verbal working memory test.
In the face of ample experimental evidence on the importance of working memory capacity for everyday life, there is a growing need for measures suited for clinical assessment of working memory. ForExpand
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