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.
Results
Showing 1 to 20 of 42 for “"Charcot"”.
-
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 …
-
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 …
-
Molekulargenetik der autosomal rezessiven Charcot-Marie-Tooth-Neuropathie mit fokal gefalteten Myelinscheiden
… motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth neuropathies are the most common hereditary neuromuscular disorder. In most families the disorder follows an autosomal dominant or X-linked mode of inheritance. Autosomal recessive HMSN (AR-HMSN) is rare in Western Europe, …
-
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 …
-
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 …
-
Charcot-Marie-Tooth-Neuropathie Typ 2 : neue Myelinprotein-P0-Punktmutationen und Haplotypenanalyse in europäischen Familien
… of hereditary motor and sensory neuropathies of Charcot Marie Tooth type (CMT) are among the most common inherited diseases in humans. With respect to electroneurography and nerve pathology, CMT is subdivided in demyelinating CMT1 and axonal CMT2. Causative gene mutations can be identified in …
-
Identifizierung und Charakterisierung des Gens für die autosomal rezessiv erbliche Charcot-Marie-Tooth-Neuropathie Typ 4C (CMT4C)
Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth neuropathy (CMT) is the most common inherited neuromuscular disorder. In most of the families, HMSN is inherited as an autosomal dominant or X-linked trait. In Western Europe, autosomal recessive HMSN (AR-HMSN) is much less …
-
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) …
-
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 …
-
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, …
-
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 …
-
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 …
-
Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des Genbereichs für das gap junction-Protein Connexin32 an Paraffin-eingebetteten Suralnervenbiopsien
Charcot-Marie-Tooth's sensorimotor neuropathy (CMT) represents the most common hereditary disorder of the peripheral nervous system. The X-linked dominant form of CMT (CMTX) is associated with mutations in the gene for the gap junction protein connexin32 (Cx32). In this study genetic testing of the …
-
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 …
-
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 …
-
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.
-
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 …
-
Klinik und Molekulargenetik der hereditären motorischen und sensiblen Neuropathien im Kindesalter
Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease comprises a group of clinically and genetically heterogeneous disorders of the peripheral nervous system. With an overall prevalence of 1 in 2500, CMT is the most common inherited neuromuscular disorder in man. This …
-
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 …
-
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 …
Page 1 of 3