Results 121 to 130 of about 464,487 (319)
Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy
, 2004 Objective: To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON).Methods: Auditory assessment was undertaken in two patients with LHON.
Luxon, LM, Ceranic, B
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Hereditary multiple exostoses in a15-year-old boy: A case report and review of literature
Nigerian Journal of Paediatrics, 2016 Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses ...
Eke GK , Omunakwe HE , Echem RC
doaj
FEBS Letters, EarlyView.Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes +4 more
wiley +1 more source
Full, exact subcategories of hereditary categories which are tubes
, 2010 Nils M. Full, exact subcategories of hereditary categories which are tubes.
Nils, Mahrt
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Fitting ideals and module structure [PDF]
, 2002 Let R be a commutative ring with a 1. Original work by H. Fitting showed how we can associate to each finitely generated E-module a unique sequence of R-ideals, which are known as Fitting Ideals. The aim of this thesis is to undertake an investigation of
Grime, Peter John
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A novel mutation in the transthyretin gene in amyloidosis: A cluster case report in Vietnam
Vietnam Journal of Science, Technology and EngineeringTransthyretin amyloidosis (ATTR) is a slowly progressive condition characterised by the abnormal accumulation of a protein called amyloid in the body’s organs and tissues.
Ngoc Lan Thi Nguyen +5 more
doaj +1 more source
Tau acetylation at K331 has limited impact on tau pathology in vivo
FEBS Letters, EarlyView.We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto +3 more
wiley +1 more source
Postural control in patients with hereditary motor and sensory neuropathy. Literature review
, 2020 Hereditary motor and sensory neuropathy, also known as Charcot-Mari-Tooth disease (CMT), belongs to a complex and heterogeneous group of hereditary peripheral nerve diseases.
Katarzyna Bienias
core +1 more source
Familiar Disposition of May–Thurner Syndrome—A Case Series
LifeMay–Thurner syndrome is a venous compression syndrome of the pelvic vessels that represents a relevant risk factor for thrombus formation. The standard procedure to secure a diagnosis is venography, followed by endovascular therapy as the preferred ...
Stefanie Nowak +5 more
doaj +1 more source