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Dissertations / Theses on the topic 'Charcot-Marie-Tooth'

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Published: 4 June 2021

Last updated: 14 June 2025

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1

Chojnowski, Alexandre. "Myotubularines et maladie de Charcot-Marie-Tooth." Paris 5, 2007. http://www.theses.fr/2007PA05D001.

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La maladie de Charcot Marie Tooth (CMT) est la neuropathie périphérique héréditaire la plus commune chez l'homme ; elle affecte environ une personne sur 2500. A ce jour, plus de 20 gènes ont été liés à une des formes de CMT et parmi eux, deux sont impliqués dans des formes sévères autosomiques récessives démyélinisantes, les CMT4B1 et CMT4B2. Ces gènes codent pour des protéines de la famille des myotubularines, MTMR2 et MTMR13. Les rôles cellulaires de ces protéines sont aujourd'hui encore largement inconnus. Nous avons étudié les profils d'expression de ces gènes et montré qu'ils s'expriment

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2

Stronach, Euan. "A molecular analysis of Charcot-Marie-Tooth disease." Thesis, University of Aberdeen, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.327424.

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3

Cunha, André Filipe Almeida da. "Doença de Charcot-Marie-Tooth e Nefropatia Iga." Master's thesis, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/52771.

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4

Cunha, André Filipe Almeida da. "Doença de Charcot-Marie-Tooth e Nefropatia Iga." Dissertação, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/52771.

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5

Bouquet, Marc. "Maladie de Charcot Marie Tooth : aspects cliniques et électromyographique." Montpellier 1, 1990. http://www.theses.fr/1990MON11134.

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6

Ericson-Gripenstedt, UllaBritt. "Charcot-Marie-tooth disease : muscle morphological and neurophysiological aspects /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3881-4/.

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7

Miressi, Federica. "Hereditary Peripheral Neuropathies : from Molecular Genetics to a cellular model of hiPSC-derived motor neurons." Thesis, Limoges, 2020. http://aurore.unilim.fr/theses/nxfile/default/56675caf-59b3-4af2-ae86-c5e356784128/blobholder:0/2020LIMO0053.pdf.

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La maladie de Charcot-Marie-Tooth (CMT) est la neuropathie périphérique héréditaire la plus fréquente. Actuellement plus de 80 gènes ont été identifiées comme étant à l’origine des CMT, mais le diagnostic génétique est posé seulement dans 30 à 40% des cas. Cette étude avait deux objectifs principaux : dans un premier temps, nous nous sommes intéressés aux CMT et neuropathies périphériques associées via une approche moléculaire et bioinformatique, pour optimiser leur caractérisation génétique ; dans un second temps, nous avons étudié les mécanismes altérés dans une forme axonale de CMT, par la

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8

Leal, Rita de Cássia Carvalho. "Influência da gravidez sobre a neuropatia de pacientes com a doença de Charcot-Marie-Tooth tipo 1A." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/17/17140/tde-26082016-155107/.

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A doença de Charcot-Marie-Tooth tipo 1A (CMT1A), associada à duplicação do gene da proteína da mielina periférica 22(PMP22), é a neuropatia hereditária mais comum. Administração diária de progesterona a modelos animais desta doença resultou em progressão mais rápida da neuropatia. Algumas mulheres por ela afetadas desenvolveram piora neurológica durante suas gravidezes. O objetivo deste estudo foi avaliar a influência de gestações sobre a neuropatia de pacientes com CMT1A. Mulheres afetadas responderam questões sobre sinais e sintomas apresentados durante suas gravidezes presentes e passadas.

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9

Claramunt, Alonso Reyes. "Genética de la enfermedad de Charcot-Marie-Tooth autosómica recesiva." Doctoral thesis, Universitat de València, 2008. http://hdl.handle.net/10803/9941.

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El objetivo de esta tesis doctoral es profundizar en el conocimiento de las bases genéticas y moleculares de la enfermedad de Charcot-Marie-Tooth, especialmente de las formas con herencia autosómica recesiva. En este sentido, se incluyen los resultados obtenidos del análisis genético y molecular del gen GDAP1 en una serie de 118 familias de origen español, cuyas mutaciones son las causantes de la forma autosómica recesiva axonal tipo 4A (CMT4A), así como también, el estudio genético y molecular de la enfermedad de CMT en 17 familias españolas de etnia gitana con herencia autosómica recesiva y

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10

Ramos, Margot Guarieiro. "Avaliação neurologica e podiatrica nos pacientes com Charcot-Marie-Tooth." [s.n.], 2006. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313857.

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Orientador: Anamarli Nucci<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-07T09:41:22Z (GMT). No. of bitstreams: 1 Ramos_MargotGuarieiro_M.pdf: 985606 bytes, checksum: 434d1760ad15f7e85ae84d37db9d1523 (MD5) Previous issue date: 2006<br>Resumo: Charcot-Marie-Tooth (CMT) está entre as neuropatias hereditárias mais comuns, com prevalência mundial de 1:2.500 indivíduos. Constitui-se de doenças geneticamente heterogêneas, caracterizadas por atrofia e fraqueza distais dos membros inferiores, podendo estender-se pa

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11

Rajabally, Yusuf Ali. "Maladie de Charcot-Marie-Tooth : une étude de 35 familles." Bordeaux 2, 1997. http://www.theses.fr/1997BOR23040.

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12

Cornett, Kayla Margaret Dawn. "Measuring disease severity in children with Charcot-Marie-Tooth disease." Thesis, The University of Sydney, 2017. http://hdl.handle.net/2123/17617.

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Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy, affecting approximately 1 in 1,214 to 2,500 individuals, or approximately 3-6 million people worldwide. It is a progressive disease, characterised by upper and lower limb distal weakness, sensory loss, and foot deformities (e.g. cavovarus, hammer toes). However CMT is phenotypically and genetically diverse with >80 types identified, therefore it is important to measure disease severity and progression both within and between types of CMT. Despite effective therapies to manage the disease, no curative or disea

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13

Hajjar, Hélène. "Gene therapy approach on Charcot-Marie-Tooth type 1A rats." Thesis, Montpellier, 2018. http://www.theses.fr/2018MONTT027/document.

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La myéline est une gaine formée par l’enroulement de la membrane plasmique de la cellule de Schwann autour de l’axone dans le nerf périphérique. Lorsque cette gaine est détruite, on parle de démyélinisation, cela provoque de nombreuses maladies, dont les maladies de Charcot Marie Tooth (CMT) de type 1. Les maladies CMT sont héréditaires et atteignent le système nerveux périphérique. Les symptômes communs incluent : une faiblesse musculaire, une démarche maladroite, des troubles de l’équilibre et des pieds très cambrés ou très plats. Le type le plus fréquent est la forme autosomique dominante C

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14

VENERI, FRANCESCA AGNESE. "MISGLYCOSYLATION IN CHARCOT-MARIE-TOOTH NEUROPATHIES ASSOCIATED TO MPZ MUTATIONS." Doctoral thesis, Università degli studi di Genova, 2020. http://hdl.handle.net/11567/1006950.

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Charcot-Marie-Tooth disease is the most common neuromuscular disorder, with a prevalence of 1:2500. Despite the phenotypical similarities among patients, it is characterized by a remarkable genetic heterogeneity. Among the different genes that are responsible for CMT, mutations in Myelin Protein Zero (MPZ) gene cause CMT1B and represent the 5% of all CMT cases. MPZ gene encodes for the P0 protein, the principal myelin protein of the peripheral nervous system; at the moment, more than 200 mutations in these gene are known and almost all mutations are pathogenic. The phenotype of MPZ related neu

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15

Nishiyama, Fulviana Silva. "Frequência mutacional do gene GJB1 (Cx32) na população brasileira da doença de Charcot-Marie-Tooth." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/17/17140/tde-15022012-104129/.

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A doença de Charcot-Marie-Tooth (CMT) é desordem hereditária do sistema nervoso periférico, caracterizada por fraqueza dos membros inferiores, atrofia muscular e perda sensitiva. CMTX é doença ligada ao cromossomo X a qual corresponde aproximadamente 10% das famílias com CMT, sendo a segunda causa mais frequente da doença, após a duplicação 17p11.2-p12. Neste estudo analisamos 66 pacientes com CMT, negativos para duplicação 17p, por método de DHPLC, confirmado por sequenciamento direto. Foram identificadas seis mutações, em que quatro destas não foram descritas. Desta maneira confirmou uma fre

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Chetlin, Robert D. "The effects of resistance training and oral creatine supplementation on muscle fiber morphology, strength and activities of daily living in patients with Charcot-Marie-Tooth disease." Morgantown, W. Va. : [West Virginia University Libraries], 2003. http://etd.wvu.edu/templates/showETD.cfm?recnum=2891.

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Thesis (Ph. D.)--West Virginia University, 2003.<br>Title from document title page. Document formatted into pages; contains xii, 156 p. : ill. (some col.). Includes abstract. Includes bibliographical references.

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17

Santos, Lidiane Carine Lima. "Perfil epidemiológico, sociodemográfico e psicossocial da doença de Charcot-Marie-Tooth." Universidade Federal de Sergipe, 2016. https://ri.ufs.br/handle/riufs/3625.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES<br>Charcot-Marie-Tooth (CMT) disease is the most common genetically determined neurological condition in the world. It is characterized by a slow and progressive degeneration of the peripheral nerves, leading to weakness and atrophy of distal limb muscles. CMT is classified in two main subgroups: CMT type 1 (CMT1), demyelinating form, and CMT type 2 (CMT2), axonal form. The first objective of this study was to conduct a systematic review of the prevalence of CMT disease in the world and the second was to evaluate the epidemiol

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18

Mandarakas, Melissa Rivkah. "Development and validation of the Charcot-Marie-Tooth disease Infant Scale." Thesis, The University of Sydney, 2018. http://hdl.handle.net/2123/19659.

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Charcot-Marie-Tooth disease (CMT) is the most commonly inherited neuropathy. Many genetic subtypes of CMT show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. No outcome measures have been validated for infants <3 years with CMT, a barrier to conducting trials for disease-modifying interventions, as well as running natural history studies (Chapter One). Existing outcome measures for the assessment of disease severity for infants with neuromuscular disease were

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19

Donlevy, Gabrielle. "Body composition and disability in children with Charcot-Marie-Tooth Disease." Thesis, The University of Sydney, 2022. https://hdl.handle.net/2123/29383.

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Charcot-Marie-Tooth disease (CMT) is characterised by progressive peripheral nerve degeneration causing muscle weakness, sensory impairment and foot deformity. There are no known disease modifying therapies for CMT. Body mass has an influence on disability in Duchenne muscular dystrophy and spinal muscular atrophy and it is likely that body weight and muscle and fat mass influence disability in childhood CMT. The studies in this thesis investigate the relationship between anthropometry, body composition and disability in childhood CMT. Disability was measured on the CMT Pediatric Scale (CMTPed

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20

Mathis, Stéphane. "Corrélations génotype/phénotype dans la maladie de Charcot-Marie-Tooth : l'exemple des mutations du gène INF2." Thesis, Limoges, 2014. http://www.theses.fr/2014LIMO0038/document.

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La maladie de Charcot-Marie-Tooth (CMT) est une pathologie neurologique affectant le système nerveux périphérique. Bien que décrite à la fin du XIXème siècle, la découverte d’une anomalie génétique n’a été identifiée chez ces patients que dans les années 1990 (duplication du gène PMP22). Depuis, de nombreux gènes ont été incriminés, et leur nombre ne cesse d’augmenter. Ainsi, cette multitude de gènes nous incite à rechercher des corrélations phénotype-génotype qui permettent d’orienter au mieux le diagnostic et la prise en charge de ces patients. Comme nous le montrons au travers de nos travau

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21

Neves, Eduardo Luis de Aquino. "Investigação clínica, neurofisiológica e genética da doença de Charcot-Marie-Tooth tipo 2 de herança dominante." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-05052011-115957/.

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A doença de Charcot-Marie-Tooth (CMT) caracteriza-se por comprometimento dos nervos periféricos de predomínio distal, tendo curso clínico variável. Observa-se quadro de evolução lenta de atrofia e fraqueza distal em membros inferiores, seguidos por diminuição da sensibilidade. Os reflexos estão em geral abolidos, mas podem estar exaltados e acompanhados de sinal de Babinski. É frequente o encontro de atrofia do terço distal das pernas, de pes cavos e de deformidades em artelhos. A doença de CMT pode ser classificada, com o auxílio da eletroneuromiografia, em desmielinizante (CMT1) ou axonal (C

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22

MacMillan, J. C. "The Charcot-Marie-Tooth Syndrome : a population genetic study in South Wales." Thesis, University of Aberdeen, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.293523.

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The Charcot-Marie-Tooth (CMT) syndrome comprises a heterogeneous group of disorders affecting the peripheral nerves and anterior horn cells of the spinal cord. They constitute a significant proportion of the burden of disability due to the single gene neurological disorders, with a prevalence of 18.1 per 100000 of the South Wales population. The clinical manifestations of these disorders have been documented and their severity assessed using a standard protocol. The commonest disorder in the group is type I hereditary motor and sensory neuropathy (type I HMSN) (prevalence 11.0 per 100000 popul

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Ramdharry, Gita Mary. "Compensatory strategies while walking in Charcot-Marie-Tooth disease : impact and intervention." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1445812/.

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Charcot-Marie-Tooth disease (CMT) is a peripheral neuropathy presenting with distal weakness and sensory loss. This thesis examines the role that proximal activity plays in compensating for distal weakness to maintain functional walking. Comparative 3D gait analysis showed reduced range of ankle motion kinetics in people with CMT. Additionally, swing phase hip flexion increased, moments and power around the knee altered during preswing and trunk motion increased. These changes were related to the degree of distal weakness. Proximal adaptations were also observed in healthy control subjects fol

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Gaudin, Thierry. "Chirurgie fonctionnelle de la main dans la maladie de Charcot-Marie-Tooth." Montpellier 1, 1991. http://www.theses.fr/1991MON11102.

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Ellis, David. "The molecular genetics of myelin genes." Thesis, Institute of Cancer Research (University Of London), 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.481211.

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26

Fairweather, Nicholas D. "Genetic and molecular investigation of the CMTX1 locus." Thesis, University of Aberdeen, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.387254.

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X-linked Charcot-Marie-Tooth disease (CMTX1), a peripheral neuropathy, is clinically characterised by slow progressive weakness and wasting of the distal muscles with associated sensory loss. The CMTX1 locus had previously been localised to the pericentromeric region of the X chromosome. Our initial linkage analysis utilising Restriction Fragment Length Polymorphisms (RFLPs) confirmed that CMTX1 mapped proximally to the DXYS1X locus (Xq21.31). Subsequent linkage analysis, carried out as part of an international consortium, utilising microsatellite polymorphisms further delineated the CMTX1 loc

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27

Stone, Elizabeth J. "The Effect of Charcot-Marie-Tooth Disease Mutations in Neurofilament Light on Neurofilaments." The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1585652615669143.

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28

LALLOT, CLAUDINE ODETTE. "Association d'une maladie de charcot-marie et tooth et d'une pseudo-obstruction intestinale." Lyon 1, 1993. http://www.theses.fr/1993LYO1M166.

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29

Esteve, Clothilde. "Génétique et physiopathologie de la maladie de Charcot-Marie-Tooth de type 4H." Thesis, Aix-Marseille, 2014. http://www.theses.fr/2014AIXM5082.

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CMT4H est une forme de CMT démyélinisant, à transmission autosomique récessive, pour laquelle notre équipe a identifié le gène responsable. Il s'agit du gène FGD4, codant pour FRABIN, protéine de 766 AA possédant 5 domaines fonctionnels: le domaine FAB de liaison à l'actine, un domaine DH responsable de l'échange GDP/GTP, et trois domaines de liaison avec des polyphosphoinositides. C'est une RhoGEF, connue pour activer les RhoGTPases Cdc42 et Rac1.Mon projet de thèse vise à mieux comprendre les bases moléculaires et les mécanismes physiopatologiques qui sous-tendent CMT4H grace à l'étudie de m

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Wojciechowski, Elizabeth. "Personalised orthotic therapy using 3D printing in children with Charcot-Marie-Tooth disease." Thesis, University of Sydney, 2020. https://hdl.handle.net/2123/23718.

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Children with Charcot-Marie-Tooth disease (CMT), are often prescribed custom-made ankle-foot orthoses (AFO) to manage walking difficulty. These externally worn assistive devices are usually handmade using a plaster cast of the patient's lower limb followed by thermoplastic vacuum forming. This traditional approach is labour-intensive and provides limited design options, resulting in AFOs which are cumbersome and associated with low acceptability, discomfort and suboptimal biomechanical function. The aim of this PhD Thesis was to develop, redesign and evaluate 3D printed AFOs compared to tradit

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Ho, Hon Kwan. "Characterisation of LITAF, a protein associated with Charcot-Marie-Tooth disease type 1C." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/276742.

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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 respectively. Over 90 genes have been identified associated with the disease. Among the genes associated with demyelinating CMT, the focus of my thesis is LITAF, mutations in which lead to an autosomal dominant demyelinating CMT known as CMT type 1C. LITAF is a 17 kDa protein likely to be involved in en

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Faye, Pierre-Antoine. "Cellules souches pluripotentes induites (iPSc) différenciées en motoneurones spinaux : vers des modèles cellulaires de neuropathies périphériques d'origine génétique." Thesis, Limoges, 2015. http://www.theses.fr/2015LIMO0051/document.

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Les cellules souches induites à la pluripotence (iPSc) apparaissent comme une solution très intéressante pour créer et observer le comportement de cellules spécifiques et inaccessibles d'un patient. Notre équipe travaille sur les pathologies génétiques des nerfs périphériques et en particulier la maladie de Charcot-Marie-Tooth (CMT). Un de nos objectifs est le développement de modèles de motoneurones de patients utilisant la stratégie des iPSc afin de mieux comprendre la physiopathologie des neuropathies liées au gène GDAP1. Ce gène a été décrit en 1998 pour être responsable d'une forme axonal

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Hantke, Janina. "Positional cloning of the gene mutated in hereditary motor and sensory neuropathy-russe (HMSNR) /." Connect to this title, 2004. http://theses.library.uwa.edu.au/adt-WU2005.0104.

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Neves, Carlos Eduardo Sousa. "The aetiology and genetics of clubfoot in the peroneal muscular atrophy mouse model." Thesis, University of Aberdeen, 2013. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?pid=202783.

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The present study is focused on understanding the aetiology of the human clubfoot deformity. Although this pathology has been studied since Classical Antiquity, the mechanisms that lead to this abnormality in new-born patients remain elusive. Clubfoot is a deformity of one or both feet present at birth, in which the foot is abnormally positioned in a hand-like position, that is, the foot is turned and rotated inwards while pointing down; and is resistant to any further movements. Very little is known about the aetiology and genetics of clubfoot in the human population. Only recently, mutations

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Schuhmacher, Christine [Verfasser], and Peter [Akademischer Betreuer] Young. "Schlafbezogene Atmungsstörungen bei Patienten mit Charcot-Marie-Tooth-Erkrankung / Christine Schuhmacher. Betreuer: Peter Young." Münster : Universitäts- und Landesbibliothek der Westfälischen Wilhelms-Universität, 2012. http://d-nb.info/1027027725/34.

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Landoure, G. "Clinical, laboratory, and genetic studies of families with Charcot-Marie-Tooth type 2C disease." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1331894/.

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Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm, and laryngeal muscle weakness. We studied five unrelated families with CMT2C, of which two showed significant linkage to chromosome 12q24.11. Linkage analysis excluded this locus in one of the remaining families, suggesting genetic heterogeneity within this CMT subtype. SNP genotyping of samples from affected individuals in the three linked families did not reveal any deletion or copy number variation. All genes in this region were sequenced and two heterozygous missense mutations

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Bartl, Michael [Verfasser]. "Untersuchungen zur neuromuskulären Pathophysiologie bei der Charcot-Marie-Tooth-Typ-1A-Erkrankung / Michael Bartl." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2021. http://d-nb.info/1234236184/34.

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Rabarimeriarijaona, Sitraka. "Mécanismes physiopathologiques de la forme AR-CMT2A de la maladie de Charcot-Marie-Tooth." Thesis, Aix-Marseille, 2014. http://www.theses.fr/2014AIXM5087.

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La maladie de Charcot-Marie-Tooth (CMT) est une maladie neurologique héréditaire du système nerveux périphérique. A ce jour, près de 80 gènes sont décrits comme étant à l’origine d’une forme de CMT dont tous les modes de transmission sont connus. AR-CMT2A est due à une mutation faux-sens homozygote, c.892C>T, dans l’exon 5 du gène LMNA et conduit à la substitution d’une Arginine par une Cystéine (p.Arg298Cys) au sein d’un motif conservé du domaine central coil des Lamines de type A. L’étude présentée ici fait suite à un certain nombre d’observations ayant démontré la diminution de l’express

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Siddell, Anna. "Unraveling The Pathogenic Molecular Mechanisms Of Morc2 Mutations Causing Charcot-Marie-Tooth Type 2Z." Thesis, The University of Sydney, 2016. http://hdl.handle.net/2123/15910.

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Charcot-Marie-Tooth (CMT) neuropathy is a group of clinically and genetically heterogeneous diseases characterized by slow progressive length-dependent degeneration of motor and sensory peripheral nerves. A new form of axonal CMT (CMT2Z) was recently identified and is caused by mutations in the Microrchidia 2 (MORC2) gene. It is currently not known how mutations in the MORC2 gene cause axonal degeneration. The MORC2 protein is a chromatin modifier involved in the epigenetic regulation of gene transcription and DNA repair. MORC2 also regulates the activity of ATP-citrate lyase in the cytoplasm,

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Grosz, Bianca Rose. "Examining gap junction beta 1 gene dysregulation in X-linked Charcot-Marie-Tooth neuropathy." Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/25461.

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Charcot-Marie-Tooth (CMT) neuropathy is the most commonly inherited neurological disorder and is characterised by the progressive degeneration of peripheral motor and sensory neurons. Mutations in both coding and non-coding regions of the gap junction beta 1 (GJB1) gene, which encodes for connexin 32 (Cx32), cause the X-linked CMT-subtype CMTX1. CMTX1 is the second most common form of CMT, representing approximately 10% of those with a genetic diagnosis. Of primary interest for this project is the GJB1 c.-103C>T (NM_000166.5) mutation in the neural-specific P2 5’ untranslated region (5’ UTR) [

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Cruz, Mariana Neiva. "Doença de Charcot-Marie-Tooth ligado ao X em crianças: série de casos tipo 1 de pacientes do HC-FMRP." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/17/17160/tde-24042018-172820/.

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Entre as neuropatias periféricas hereditárias, a Doença de Charcot Marie Tooth (CMT) é a mais prevalente, sendo o Charcot Marie Tooth Lidado ao X tipo 1 (CMTX1) o segundo subtipo mais comum, causado por mutações no gene GJB1 e de herança ligada ao X. A sintomatologia de fraqueza, atrofia e alteração de sensibilidade progressiva, de padrão simétrico e distal é característica da CMT e, no CMTX1, o acometimento do sistema nervoso central pode estar associado ao quadro típico. Com relação à eletroneurofisiologia, há redução dos parâmetros de velocidade de condução nervosa, com prolongamento da lat

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FILLOD, ISABELLE. "La nephropathie de la maladie de charcot-marie-tooth : deux observations ; revue de la litterature." Lyon 1, 1990. http://www.theses.fr/1990LYO1M293.

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CORBILLON, EMMANUEL. "Apport de la biologie moleculaire dans la maladie de charcot-marie-tooth : a propos de 11 familles." Amiens, 1994. http://www.theses.fr/1994AMIEM021.

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Cruz, Catarina Andrade. "Avaliação da função pulmonar em indivíduos com a doença de Charcot-Marie-Tooth tipo 2." Universidade Federal de Sergipe, 2014. https://ri.ufs.br/handle/riufs/3883.

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A doença de Charcot-Marie-Tooth (CMT) é a neuropatia periférica hereditária mais prevalente em todo mundo e caracteriza-sepela fraqueza muscular, atrofia e hipoestesia distal dos membros podendo estar associada à hipotonia, diminuição dos reflexos profundos e, nas formais mais graves e tardias, alterações respiratórias. Objetivos: avaliar as possíveis alterações respiratórias em indivíduos de uma família multigeracional do interior do estado de Sergipe com a doença de Charcot-Marie-Tooth tipo 2.Método: foram realizadas a espirometria, amanovacuometria e o questionário de avaliação de dispneia

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Rezende, Rejane Lenier Santos. "Caracterização orofacial e avaliação funcional do sistema mastigatório em portadores de Charcot-Marie-Tooth 2." Universidade Federal de Sergipe, 2012. https://ri.ufs.br/handle/riufs/3707.

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A doença de Charcot-Marie-Tooth (CMT) é uma neuropatia hereditária que se caracteriza por comprometimento progressivo de nervos periféricos, sensitivos e motores, acometendo principalmente segmentos distais dos membros inferiores. Apresenta curso clínico bastante variável e segmentos proximais, mesmos de membros superiores, também podem ser acometidos. Nenhum estudo abrangente foi publicado anteriormente sobre a caracterização orofacial e função mastigatória em indivíduos com a doença CMT2. Portanto, o objetivo deste estudo foi realizar uma avaliação global da saúde bucal e da função mastigató

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Rasch, Lennart Martin [Verfasser]. "Therapie der Charcot-Marie-Tooth-Krankheit bei Ratten mittels einer phospholipidreichen Ernährung / Lennart Martin Rasch." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2021. http://d-nb.info/1236401670/34.

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Norreel, Jean-Chrétien. "Etude physio-pathologique d'un modèle murin de la maladie de Charcot-Marie-Tooth type 1A." Aix-Marseille 1, 2003. http://www.theses.fr/2003AIX11032.

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La maladie de Charcot-Marie-Tooth (CMT) est la plus fréquente des neuropathies périphériques héréditaires. Sa prévalence est estimée à 1 cas pour 2500 naissances. 75 % des patients CMT sont touchés par la forme 1A, qui se transmet de manière autosomale dominante. Cette pathologie est associée à la duplication d'une région de 1,5 Mb (qui contient le gène PMP22) localisée sur le bras court du chromosome 17 (17p11. 2). Des souris transgéniques porteuses de 4 ou 7 copies surnuméraires du gène PMP22 ont été réalisées par les équipes de C. Huxley et M. Fontès (Huxley et al. , 1996). Sur ce modèle de

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Lerat, Justine. "Neuropathies Périphériques Génétiques et Surdité : Etude des Relations Génétiques et Mécanistiques." Thesis, Limoges, 2018. http://www.theses.fr/2018LIMO0055.

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Les neuropathies périphériques héréditaires (NP) sont caractérisées par des phénotypes très divers et une hétérogénéité génétique importante. La maladie de Charcot-Marie-Tooth (CMT) représente la majeure partie des neuropathies périphériques sensitivo-motrices. D’autres symptômes peuvent être associés, telle que la surdité. A l’heure actuelle, aucune estimation précise de la surdité n’existe dans cette population et la pathogénicité est incertaine. L’objectif de cette thèse était de mieux comprendre la physiopathologie de la surdité chez les patients atteints de neuropathies périphériques. Pou

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El, Bazzal Lara. "Etude des mécanismes physiopathologiques des neuropathies périphériques dues à des mutations dans FRABIN (CMT4H) et VRK1." Thesis, Aix-Marseille, 2018. http://www.theses.fr/2018AIXM0736.

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Les Neuropathies Périphériques Héréditaires (IPN) constituent l’une des causes les plus fréquentes de maladies neurologiques héréditaires. Parmi elles, la maladie de Charcot-Marie-Tooth (CMT), constitue le groupe plus large. Durant ma thèse, j’ai étudié les bases physiopathologiques de deux formes d’IPN.1)J’ai étudié CMT4H, une forme rare de CMT démyélinisante, à transmission autosomique récessive, due à des mutations dans FGD4, qui code la protéine FRABIN. J’ai ainsi validé trois partenaires de FRABIN impliqués dans la voie du trafic vésiculaire. J’ai mis au point un modèle de myélinisation i

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Loret, Camille. "Maladie de Charcot-Marie-Tooth : création de modèles cellulaires neuronaux via les technologies hiPSCs et CRISPR-Cas9 et test de nouvelles stratégies thérapeutiques." Electronic Thesis or Diss., Limoges, 2024. http://www.theses.fr/2024LIMO0067.

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La maladie de Charcot-Marie-Tooth (CMT) est la neuropathie périphérique héréditaire la plus fréquente chez l’humain. Elle touche les motoneurones (MN) et les cellules de Schwann (CS). La majorité des gènes impliqués, dont SH3TC2 et GDAP1, peuvent être affectés par des mutations non-sens. En 2021, peu de modèles cellulaires humains existaient, et aucun traitement curatif n'était disponible pour les patients. Les travaux de cette thèse se centre sur SH3TC2, responsable de la forme démyélinisante autosomique récessive la plus fréquente des CMT, nommée CMT4C ou AR-CMTde-SH3TC2 et sur GDAP1 notamme

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