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Dissertations / Theses on the topic 'Hereditary motor sensory neuropathies'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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1

Heckmann, Jeannine Mariette. "Familial neuropathies : a clinical and electrophysiological study at Groote Schuur Hospital." Master's thesis, University of Cape Town, 1994. http://hdl.handle.net/11427/26268.

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2

Lee, Ming-Jen. "Genetic analysis of the hereditary sensory, motor and autonomic neuropathies, including a rat model." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.401712.

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3

Howard, Heidi C. "Identification of the gene responsible for peripheral neuropathy associated with agenesis of the corpus callosum." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84259.

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Peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN or HMSN/ACC) is a severe polyneuropathy affecting both the peripheral nervous system and the central nervous system. It is transmitted as an autosomal recessive trait and is particularly frequent in the French Canadian population of Quebec (Canada). The disease was linked to chromosome 15 in 1996 by Dr. Rouleau's team.<br>We genotyped polymorphic markers in the ACCPN candidate region on chromosome 15 in over 67 patients and 200 control individuals. Observation of affected haplotypes confirmed the presence of a
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4

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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5

Drew, Alexander Peter. "Genetics of distal hereditary motor neuropathies." Thesis, The University of Sydney, 2012. http://hdl.handle.net/2123/8652.

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The distal hereditary motor neuropathies (dHMN) are a clinically and genetically heterogeneous group of disorders that primarily affect motor neurons, without significant sensory involvement. Using genome wide linkage analysis in a large Australian family (CMT54), a form of dHMN was previously mapped by this laboratory, to a 12.98 Mb interval on chromosome 7q34-q36. The axonal neuropathy seen in this family was classified as dHMN1; with autosomal dominant inheritance, early but variable age of onset, and muscle weakness and wasting affecting the lower limbs. In this project, genetic linkage a
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6

Bansagi, Boglarka Krisztina. "Clinical and genetic characterisation of hereditary motor neuropathies." Thesis, University of Newcastle upon Tyne, 2017. http://hdl.handle.net/10443/3941.

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Inherited peripheral neuropathies or Charcot-Marie-Tooth disease (CMT) are common neuromuscular conditions, characterised by distal motor atrophy and weakness with variable range of sensory impairment and classified according to demyelinating (CMT1) or axonal (CMT2) pathology. The number of genes causing CMT has rapidly increased due to improved genetic testing technology, even though gene identification has remained challenging in some subgroups of CMT. Hereditary motor neuropathies (HMN) encompass heterogeneous groups of disorders caused by motor axon and neuron pathology. The distal heredit
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7

Rossor, A. M. "A clinical and in vitro study of the distal hereditary motor neuropathies." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1426967/.

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The hereditary motor neuropathies (HMN) encompass diseases of motor axons and neurons and range from the progressive, length dependent distal hereditary motor neuropathies (dHMN) to the developmental, non-progressive dominant congenital spinal muscular atrophies (DCSMA). In this Thesis I have investigated the pathomechanisms of HMN and undertaken a natural history study of patients with dHMN. In Chapter 2 I investigated the pathomechanism of dHMN due to homozygous mutations in the heat shock protein HSJ1, using primary motor neurons (MNs) from HSJ1 knockout mice. Using live cell confocal imagi
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8

Cutrupi, Anthony Nicholas. "Molecular Genetics of Distal Hereditary Motor Neuropathies: Modelling the DHMN1 Complex Insertion." Thesis, University of Sydney, 2020. https://hdl.handle.net/2123/22884.

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Distal hereditary motor neuropathies (dHMN) are a group of progressive diseases with length-dependent axonal degeneration primarily affecting the lower motor neurons of the peripheral nervous system. This causes denervation of distal muscles resulting in atrophy and paresis affecting the lower limbs leading to chronic disability. Using whole genome sequencing we recently identified a large chromosomal insertion within the DHMN1 locus on chromosome 7q34-q36.2 (DHMN1; OMIM %182960) in a large Australian family (F-54) (Drew et al. Hum Genet. 2016). The complex insertion DNA re-arrangement involve
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9

Svensson, Elisabeth. "Hand function in children and in persons with neurological disorders : aspects of movement control and evaluation of measurements." Doctoral thesis, Umeå : Department of Community Medicine and Rehabilitation, Physiotherapy, Umeå University, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-22042.

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10

Dati, Gabriele. "A transgenic mouse model of hereditary motor and sensory neuropathy." Thesis, Open University, 2009. http://oro.open.ac.uk/54643/.

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Congenital Hypomyelination (CH) is the most severe demyelinating form of Hereditary Motor and Sensory Neuropathies and manifests at birth in human. Some subtypes of CH are due to dommant mutations in the gene coding for PO glycoprotein, which fiinctions as a homophilic adhesion protein, responsible for compaction of opposing myelin lamellae. By homologous recombination in ES cells, we have generated a mouse containing a nonsense mutation m the intracellular portion of PO (Q215X) that, in the heterozygous state, is associated with CH neuropathy in humans.
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11

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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12

Hantke, Janina. "Positional cloning of the gene mutated in hereditary motor and sensory neuropathy-russe (HMSNR)." Western Australian Institute for Medical Research, 2005. http://theses.library.uwa.edu.au/adt-WU2005.0104.

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Hereditary Motor and Sensory Neuropathy-Russe (HMSNR) is a rare recessive form of Charcot-Marie-Tooth disease (CMT) that has been identified in the European Gypsy (Roma) population. Clinically, HMSNR manifests with typical CMT symptoms, while no associated features have been detected. Distinct neuropathological features of HMSNR include the presence of numerous clusters of thinly myelinated fibres originating from regenerative activity. HMSNR has been previously mapped to chromosome 10q using a large Bulgarian Gypsy kindred. Subsequent identification of related chromosome 10q haplotypes in Spa
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13

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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14

Alves, Cyntia Rogean de Jesus. "Interação dos fatores musculoesqueléticos com o equilíbrio de crianças e adolescentes com neuropatia sensorial e motora hereditária." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/17/17152/tde-19072018-161729/.

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O controle postural na doença de Charcot-Marie-Tooth (CMT) está subsidiado em estudos com adultos, nos quais deformidades distais, desequilíbrios musculares e aspectos maturacionais estão bem documentados. Para infância e adolescência, o controle postural permanece por ser explorado e pode contribuir para elucidar como um sistema neuromuscular imaturo lida com a doença em curso. Neste contexto, foi proposto um estudo de desenho transversal (Estudo 1) composto por crianças e adolescentes com CMT (encaminhados ao Ambulatório CMT-Infantil do Centro de Reabilitação do HCFMRP-USP; Grupo CMT) e seus
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15

Costa, Iandra Maria Pinheiro de França. "Avaliação do equilíbrio, da força muscular e da funcionalidade de indivíduos com a doença de Charcot-Marie-Tooth." Universidade Federal de Sergipe, 2016. https://ri.ufs.br/handle/riufs/3615.

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The Charcot-Marie-Tooth disease (CMT) is peripheral neuropathy genetically inherited most common worldwide. The most cases of CMT can be classified into two major categories of the nature of the primary nerve injury: CMT type 1 and type 2. The main clinical symptoms are muscle weakness and decreased sensation in the legs and feet, changes in gait and balance. The objectives of this study were to conduct a systematic review of the balance and functionality of individuals with the disease of Charcot-Marie-Tooth (CMT), as well as assess the muscle strength, balance and functionality of individual
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16

Oltrogge, Jan Hendrik. "Konditionale Inaktivierung von Pten in einem neuen Mausmodell für tomaculöse Neuropathien." Doctoral thesis, 2017. http://hdl.handle.net/11858/00-1735-0000-002B-7D27-5.

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In der Entwicklung des peripheren Nervensystems formen Schwannzellen eine Myelinscheide um Axone mit einem Durchmesser von mehr als 1 μm durch die Bildung multipler kompakter Membranschichten. Voraussetzung einer optimalen Nervenleitgeschwindigkeit ist dabei ein physiologisches Verhältnis der Dicke der Myelinscheide zu dem jeweiligen Axondurchmesser. Eine zentrale Rolle spielt dabei der axonale EGF-like growth factor NRG1 Typ III, der ErbB2/3- Rezeptoren der Schwannzelle bindet. Der PI3K-AKT-Signalweg ist ein bekannter intrazellulärer Effektor des ErbB2/3-Rezeptors und wurde bereits mit dem
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17

Thomas, Tina. "A Québec mystery unveiled : the quest to understand hereditary sensory and autonomic neuropathy type 2." Thèse, 2007. http://hdl.handle.net/1866/15782.

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