Global ETD Search
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Showing 1 to 18 of 18 for “"Charcot-Marie-Tooth Disease"”.
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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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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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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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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
… accuracy and pattern recognition in muscle diseases. The thesis is structured into three main studies. First, a systematic review evaluates the state of AI-assisted pattern recognition in MRI of myopathies, highlighting the potential of deep learning and machine learning models to outperform …
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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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Role of Gigaxonin in the Regulation of Intermediate Filaments: a Study Using Giant Axonal Neuropathy Patient-Derived Induced Pluripotent Stem Cell-Motor Neurons
… amyotrophic lateral 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 …
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CROSS-DISEASE ANALYSIS OF MOLECULAR AND CELLULAR MECHANISMS IN KIF5A-ASSOCIATED NEURODEGENERATIVE DISORDERS
… spastic paraplegia type 10 (SPG10) and axonal Charcot-Marie-Tooth disease (CMT), while frameshifts in its tail are linked to amyotrophic lateral sclerosis (ALS) and neonatal intractable myoclonus (NEIMY). To date, the molecular bases underpinning such clinical heterogeneity have been only …
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Medicinal cannabis for neuropathic pain
… diabetic neuropathy. Other causes are genetic diseases (e.g. Charcot-Marie-Tooth disease), immune disorders or medications (e.g. chemotherapy drugs) or injury. Neuropathic pain, regardless of its cause, is often poorly managed leading to poor quality of life for those patients. The currently …
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NEW PERSPECTIVES ON POSTURAL CONTROL IN CHILDREN AND ADULTS
… of children with neurological or neuromuscular diseases with the aim of differentiating the pathologies under study; the others (RA-2 and RA-3) focused on gait initiation (GI). Specifically, I started a study (RA-2) to assess the existence of Anticipatory Postural Adjustments (APAs) in healthy …
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Molecular analysis of myotonic dystrophy type 1 patients with an unusual molecular diagnosis
… and an increase in the severity of the symptoms. Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous, hereditary motor and sensory neuropathy of the peripheral nervous system. To date, 30 different loci have been mapped and mutations have been identified in more than 20 different …
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C-terminal lysines modulate Connexin32 turnover and its ability to suppress growth of Neuro-2a cell cultures
… a common cause of the demyelinating neuropathy, Charcot-Marie-Tooth disease. Most studies addressing post-translational modifications of connexins focus on Cx43, which shares little sequence homology with Cx32 in the domains that are most-often subject to post-translational modification. We …
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Mitofusin 2 Regulated Transport of Mitochondria is Necessary for Axonal Integrity
… mechanism underlying the loss of axons in Charcot-Marie-Tooth Disease type 2A, which is caused by mutations in the mitofusin 2: MFN2) gene. Utilizing an in vitro culture system, we find that CMT2A associated MFN2 mutants disrupt the transport of axonal mitochondria in DRG neurons. Though …
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The role of neurofilament-light polipeptide (NEFL) in the onset and progression of hepatocellular carcinoma
… whose mutations are responsible of motor-neuron disease such as Charcot-Marie-Tooth disease type 2E, is also involved in some types of malignancies. However, no information about NEFL and HCC are available. Aim: Aim of this study was to investigate the role of NEFL in the several stages of HCC …
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Crystallographic, Molecular Dynamics, And Enzymatic Studies Of Multi-Drug Resistant Hiv-1 Protease And Implications For Structure Based Drug Design (project 1); Crystallographic Studies Of Human Myelin Protein Zero (project 2)
… to investigate the molecular mechanism of Charcot-Marie-Tooth disease subtype 1B. The based on the wild type structure of the extracellular domain of human myelin protein zero, five clinically important mutants are structurally investigated in details. The molecular pathology is proposed …
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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 …