Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 34 for “"Charcot"”.
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Common Pathophysiological Features of Charcot-Marie-Tooth Disease
Hereditary peripheral neuropathy, also known as Charcot-Marie-Tooth disease (CMT) and related disorders, are a group of genetic disorders causing length-dependant neuropathy, resulting in motor and/or sensory loss progressing from the lower extremities toward the spine. With a population prevalence …
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Foot Deformity and Bone Strength in Charcot Neuropathic Osteoarthropathy
<p>Charcot neuropathic osteoarthropathy: CN) is characterized by progressive degradation of bones and joints in a denervated, inflamed foot and ankle. Diabetes mellitus: DM) and peripheral neuropathy: PN) are the most common precursors of CN, which can lead to pedal fracture, subluxation, and …
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Progressive (dis)ability: the experience of living with Charcot-Marie-Tooth disease
… of the experiences of six women living with Charcot-Marie-Tooth (CMT), an inherited degenerative neurological condition with a range of debilitating symptoms. It is the first ever in-depth qualitative study into the lived experience of CMT, which is relatively common yet largely unknown. This …
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Characterisation of LITAF, a protein associated with Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease (CMT) is the commonest inherited neuromuscular disorder, which affects the peripheral nervous system leading to nerve degeneration. CMT is categorised into two forms, ‘axonal’ and ‘demyelinating’, which reflects the main site of pathology as the axon or Schwann cells …
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Human dental pulp stem cells as a patient-in-a-dish model for Charcot-Marie-Tooth disease type 1A
De ziekte van Charcot-Marie-Tooth type 1A (CMT1A) is een veel voorkomende erfelijke neuropathie die wordt gekenmerkt door een abnormale myelinisatie van de perifere zenuwen en treft wereldwijd ongeveer 1 op 5000 personen. Veroorzaakt door de verdubbeling van het perifere myeline proteïne 22 (PMP22) …
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Die Rolle von Immunzellen bei der primär genetisch-vermittelten Demyelinisierung in einem Mausmodell für die Charcot-Marie-Tooth-Neuropathie, Typ 1X
Ziel der vorliegenden Arbeit war, zu untersuchen, ob Immunzellen den Schweregrad einer peripheren Neuropathie im Mausmodell von CMT1X (Cx32def (Cx32-defiziente) Maus) beeinflussen können. Mit Hilfe von immunhistochemischen Färbemethoden, lichtmikroskopischen, immunelektronenmikroskopischen und …
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Making history, picturing hysteria : archaeology, ficto-criticism, and the critical history of Nicole Jolicoeur's La vérité folle
… the hysterical patients of Dr. Jean-Martin Charcot at the Salpêtrière hospital in late nineteenth century France. Jolicoeur's work is explored in the context of the constructed nature of both hysteria as an illness and the photograph for adeptly representing reality. Through her work, …
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Characterizing CMT-causing variants in tryptophanyl- tRNA synthetase
… cognate tRNAs. Neurological conditions, such as Charcot-Marie-Tooth (CMT) disease, have been linked to variants identified in these enzymes. I created a humanized yeast model to assess the underlying disease-causing mechanism associated with two CMT variants, H257R and D314G, present in the human …
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Από την υστερία στις λειτουργικές νευρολογικές διαταραχές: Το διαγνωστικό πρόβλημα της νευρολογίας που επιβίωσε της αλλαγής του επιστημονικού παραδείγματος
… ιατρών της Νευρολογίας, προεξάρχοντος του J. M. Charcot , διαλεύκανε και ταξινόμησε μια σειρά νοσημάτων τότε, θέτοντας το πλαίσιο της ειδικότητας της Νευρολογίας. Το νόσημα της Υστερίας αποτέλεσε σημείο ενδιαφέροντος λόγω της ιδιαίτερης κλινικής του εικόνας και του ανεξιχνίαστου υποβάθρου του. Οι …
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Essential Caretaking for Artists with Disabilities: Exploring the Overlooked Histories of Hazel Knapp and Grandma Moses
… divergent career outcomes. Knapp was born with Charcot-Marie-Tooth disease, a neurodegenerative disorder, and fell into obscurity due to a lack of support for her condition, but experienced a promising start to her career that included patronage by Gertrude Stein and inclusion in an exhibition …
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Posterior cerebral artery (PCA) infarcts and dreaming : a neuropsychological study
… have cast doubt on Solms's reformulation of Charcot-Wilbrand Syndrome (CWS) into two distinct disorders of dreaming, and caused substantial confusion in dream research as far as the neurological correlates of dreaming are concerned. This study attempted to confirm these case reports and …
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Mortalidad posterior a amputaciones no traumáticas de miembros inferiores en un hospital de la subred integrada de servicios de salud sur occidente E.S.E
… etiologías encontradas se destaca el pie de charcot y la fascitis necrotizante Conclusiones: la mortalidad posterior a dicho procedimiento es significativa, en el presente estudio se observa en 54% de los pacientes al año de la intervención quirúrgica.
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Genetics of hearing impairment and peripheral neuropathy in Mali
… of HI-causal variants is insignificant. Charcot-Marie-Tooth disease (CMT), is the most common inherited peripheral neuropathy (IPN) with a high clinical and genetic heterogeneity and over 100 genes are related to CMT, mostly in populations of Caucasian ancestry. Yet, despite being …
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NEW ADVANCES IN QUANTITATIVE RADIOLOGY:MRI IMAGING IN MYOPATHIES
… study of the split-hand syndrome (SHS) in Charcot-Marie-Tooth disease type X1 (CMTX1), combining clinical, neurophysiological, and radiological data. SHS, previously associated mainly with motor neuronopathies, was identified in over half of CMTX1 patients using standard criteria and …
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Psychologies and Spaces of Accumulation: The hoard as collagist methodology (and other stories)
… reference to written/visual case-studies from Charcot and Freud. I question whether disorder can ever be seen as a culturally produced phenomenon in parallel to its clinical counterpart and suggest its uses to knowledge production within the fields of Fine Art and critical theory. I suggest …
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Educational psychologists' experiences regarding the inclusion of spirituality in therapeutic practice
… can be traced back to the thinking of Freud and Charcot has resulted in a lack of research concerning the relevance of spirituality within a mental healthcare framework and moreover has led to the exclusion of this practice as a component in many psychological training programmes. Recent …
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Axonal Translation and Links to Neuropathies
… this process is affected in axons expressing the Charcot-Marie-Tooth disease type 2B (CMT2B)-related Rab7a mutants, leading to abnormal mitochondrial biogenesis and activity and compromised axon survival. Finally, attenuated de novo protein synthesis is observed in axons expressing amyotrophic …
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IN VIVO AND IN VITRO EVALUATION OF THE COMBINATION OF RNA INTERFERING AND GENE THERAPY FOR TREATING MITOFUSIN2-RELATED DISEASES
… dominant mutations in the MFN2 gene cause Charcot-Marie-Tooth type 2A disease (CMT2A), a severe and disabling sensory-motor neuropathy. Here, we propose a novel therapeutic strategy tailored to the correction of the root genetic defect of CMT2A, based on the combination of RNA- interference …
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Untersuchungen zum Zusammenhang zwischen mitochondrialer Morphologie, Alterung und Apoptose in Saccharomyces cerevisiae
… mit einer Reihe von schweren Erkrankungen, wie Charcot-Marie-Tooth Neuropathie Typ 2A oder Dominanter Optischer Atrophie einher. Zudem spielen Mitochondrien und die mitochondriale Dynamik eine zentrale Rolle beim programmierten Zelltod (Apoptose). Die Fragmentierung der Mitochondrien ist dabei …
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Role of Gigaxonin in the Regulation of Intermediate Filaments: a Study Using Giant Axonal Neuropathy Patient-Derived Induced Pluripotent Stem Cell-Motor Neurons
… sclerosis, Parkinson's disease and axonal Charcot-Marie-Tooth disease. In GAN such changes are often striking: peripheral nerve biopsies show enlarged axons with accumulations of neurofilaments; so called "giant axons." Interestingly, IFs also accumulate in other cell types in patients. …
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