Relevant bibliographies by topics / Charcot-Marie-Tooth

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Charcot-Marie-Tooth'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 July 2025

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Journal articles on the topic "Charcot-Marie-Tooth"

1

Harris, N. "Charcot-Marie-Tooth." British Dental Journal 206, no. 4 (2009): 187. http://dx.doi.org/10.1038/sj.bdj.2009.124.

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Dincher, Dr Andrea, and Lena Michelle Dincher. "Effects of Conventional Therapy on Quality Of Life in CMT Disease. Review and Meta-Analysis." International Journal of Medical Science and Clinical Invention 9, no. 07 (2022): 6190–205. http://dx.doi.org/10.18535/ijmsci/v9i07.04.

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Objectives: Up to now, only symptoms of Charcot-Marie-Tooth disease can be treated. This work investigates which therapy is the most effective in Quality of Life in Charcot-Marie-Tooth. Methods: A literature research was conducted (search terms “Whole Body Vibration” or “WBV” or “Exercise” or “Rehabilitation” and “Charcot Marie Tooth” or “CMT” or “Hereditary Neuropathy” or “HMSN”) in five online databases. Inclusion: Publications from January 1990 to April 2022. Exclusion: No conventional treatment or Charcot-Marie-Tooth. Methodological quality: assessed by PEDro score. Effect sizes: calculate
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3

Shnayder, N. A., Ye V. Gluschenko, and Ye A. Kozulina. "Evaluation of life quality in patients with hereditary neuropathy Charcot—Marie—Tooth in the Krasnoyarsk Region." Bulletin of Siberian Medicine 10, no. 2 (2011): 57–62. http://dx.doi.org/10.20538/1682-0363-2011-2-57-62.

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To assess the life quality in patients with hereditary neuropathy Charcot—Marie—Tooth in the Krasnoyarsk Region. Life quality was assessed in 28 patients with confirmed diagnosis of hereditary neuropathy Charcot—Marie—Tooth, using the «EuroQuality of Life — 5 Dimention», Rankin scale. A significant decline in the quality of life in patients with hereditary neuropathy Charcot—Marie—Tooth suggests the need to develop strategies for their physical, medical and social rehabilitation.
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Young, P., and B. Dräger. "Charcot-Marie-Tooth-Erkrankungen." Nervenheilkunde 36, no. 01/02 (2017): 56–60. http://dx.doi.org/10.1055/s-0038-1635137.

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ZusammenfassungDie Gruppe der hereditären Neuropathien (Charcot-Marie-Tooth-Erkrankungen, CMT) ist eine klinisch und genetisch heterogene Gruppe von peripheren Neuropathien. Die Prävalenz beträgt 1:2 500, womit die CMT zu den seltenen Erkrankungen zählen. In der klinischen Neurologie stellen sie die häufigste neurogenetische Erkrankung dar. Die CMTFormen mit sensiblen und motorischen Symptomen sind am häufigsten. Neben diesen Formen gibt es rein sensible Formen, mit oder ohne autonome Symptome (HSAN), rein motorische Neuropathien (dHMN) und die besondere Form der hereditären Neuropathie mit Ne
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Berciano, J., and J. Calleja. "Charcot-Marie-Tooth disease." Neurology 44, no. 10 (1994): 1985. http://dx.doi.org/10.1212/wnl.44.10.1985-a.

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Garcia, C. A., D. A. Kaku, G. J. Parry, and J. R. Lupski. "Charcot-Marie-Tooth disease." Neurology 44, no. 10 (1994): 1986. http://dx.doi.org/10.1212/wnl.44.10.1986.

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Chetlin, R. D., R. A. Yeater, I. H. Ullrich, L. A. DeChristopher, and L. Gutmann. "CHARCOT-MARIE-TOOTH DISEASE." Medicine & Science in Sports & Exercise 34, no. 5 (2002): S230. http://dx.doi.org/10.1097/00005768-200205001-01287.

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Reilly, Mary M., Sinéad M. Murphy, and Matilde Laurá. "Charcot-Marie-Tooth disease." Journal of the Peripheral Nervous System 16, no. 1 (2011): 1–14. http://dx.doi.org/10.1111/j.1529-8027.2011.00324.x.

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Casasnovas, Carlos, Luis Miguel Cano, Antonia Albertí, Maria Céspedes, and Gillem Rigo. "Charcot-Marie-Tooth Disease." Foot & Ankle Specialist 1, no. 6 (2008): 350–54. http://dx.doi.org/10.1177/1938640008326247.

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Casasnovas, C., L. M. Cano, A. Alberti, M. Cespedes, and G. Rigo. ": Charcot-Marie-Tooth Disease." Foot & Ankle Specialist 1, no. 6 (2008): 350–54. http://dx.doi.org/10.1177/1938640008326247.

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

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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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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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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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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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Kotaich, Farah. "Neurofilaments in health and Charcot-Marie-Tooth Disease." Electronic Thesis or Diss., Lyon 1, 2024. http://www.theses.fr/2024LYO10352.

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Les neurofilaments (NFs) sont le constituant le plus stable et le plus abondant des neurones matures. S'interconnectant avec les filaments d'actine et les microtubules, ils constituent le cytosquelette neuronal. Causes génétiques de la maladie de Parkinson, de la sclérose latérale amyotrophique (SLA) et des maladies de Charcot-Marie-Tooth (CMT), les NFs s’agrègent de façon anormale et précoce dans de la plupart des maladies neurodégénératives chez l'homme. Présentant une prévalence de 1/2500 personnes, les CMTs sont reconnues comme les maladies neurodégénératives les plus courantes du système
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Bouquet, Marc. "Maladie de Charcot Marie Tooth : aspects cliniques et électromyographique." Montpellier 1, 1990. http://www.theses.fr/1990MON11134.

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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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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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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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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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Books on the topic "Charcot-Marie-Tooth"

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Gayot, Charlotte. En sables mouvants: Dérision et poésies. Éditions Unicité, 2018.

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2

Lovelace, Robert E. Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics and therapy. Wiley, 1990.

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3

International Conference on Charcot-Marie-Tooth Disease (2nd 1987 Harriman, N.Y.). Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics, and therapy. Edited by Lovelace Robert E and Shapiro Howard K. Liss, 1990.

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Régina, Norbert. La femme immobile: Roman. Flammarion, 1992.

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Andrew, Northern, and CMT International UK, eds. Charcot-Marie-Tooth disease: A practical guide : also known as hereditary motor and sensory neuropathy and peroneal muscular atrophy. CMT International UK, 2000.

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Parker, James N., and Philip M. Parker. Charcot-Marie-Tooth disease: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. ICON Health Publications, 2007.

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Oullette, Jamal. Marie Tooth Disease : Charcot Marie Tooth Treatment: Marie Sharp Tooth Disease. Independently Published, 2021.

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8

Creigh, Peter D., and David N. Herrmann. Charcot-Marie-Tooth Disease and Pregnancy. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190667351.003.0025.

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Charcot-Marie-Tooth neuropathies (CMT) represent the most common hereditary neuropathies and can affect men and women from infancy to adulthood. There are no effective or FDA approved pharmacologic treatments aimed at disease modification for any form of CMT, so the primary focus of clinical care is on symptomatic treatment, maintaining functionality, and limiting secondary injury. CMT does not in general appear to affect a woman’s ability to carry a pregnancy. However, having CMT does increase the risk of delivery related complications (operative delivery, fetal presentation anomalies and pos
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CHARCOT-MARIE-TOOTH DISEASE: A PROCTICAL GUIDE. Softback, 2000.

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Emert, Giuseppe. Marie Tooth Disease Cmt : What Is Charcot-Marie-Tooth Disease: Central Nervous Disorders. Independently Published, 2021.

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Book chapters on the topic "Charcot-Marie-Tooth"

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Dalby, Patricia, and Erica Coffin. "Charcot-Marie-Tooth." In Consults in Obstetric Anesthesiology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-59680-8_35.

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Siskind, Carly E. "Charcot Marie Tooth." In Genetic Counseling for Adult Neurogenetic Disease. Springer US, 2014. http://dx.doi.org/10.1007/978-1-4899-7482-2_16.

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Varacallo, Matthew A., Ettore Vulcano, Alexander J. Kish, Tonya W. An, and Amiethab A. Aiyer. "Charcot-Marie-Tooth Disease." In Orthopedic Surgery Clerkship. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52567-9_121.

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Wang, Zhiqiang B., and Jeffrey A. Kant. "Charcot-Marie-Tooth Disease." In Diagnostic Molecular Pathology in Practice. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-19677-5_4.

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Gilbert, Patricia. "Charcot—Marie—Tooth disease." In The A-Z Reference Book of Syndromes and Inherited Disorders. Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_14.

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Khadilkar, Satish V., Rakhil S. Yadav, and Bhagyadhan A. Patel. "Charcot–Marie–Tooth Disease." In Neuromuscular Disorders. Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-5361-0_37.

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Ogata, Toru. "Charcot-Marie-Tooth Disease." In Schwann Cell Development and Pathology. Springer Japan, 2014. http://dx.doi.org/10.1007/978-4-431-54764-8_6.

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Hansen, Heather, and Seth W. O’Donnell. "Charcot-Marie-Tooth Disease." In Essential Orthopedic Review. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-78387-1_121.

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Chen, Harold. "Charcot-Marie-Tooth Disease." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_37-2.

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Thomas, Florian P., Velina Guergueltcheva, Francisco De Assis Aquino Gondim, and Albena Jordanova. "Charcot-Marie-Tooth Diseases." In Neuromuscular Disorders in Clinical Practice. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-6567-6_26.

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Conference papers on the topic "Charcot-Marie-Tooth"

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Athanasios, Alexiou, Psiha Maria, Theocharopoulou Georgia, and Vlamos Panayiotis. "Automated prediction procedure for Charcot-Marie-Tooth disease." In 2013 IEEE 13th International Conference on Bioinformatics and Bioengineering (BIBE). IEEE, 2013. http://dx.doi.org/10.1109/bibe.2013.6701635.

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Schorling, E., S. Thiele, L. Gumbert, et al. "Krankheitskosten der Charcot-Marie-Tooth-Neuropathie (CMT) in Deutschland." In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685100.

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Fledrich, R. "Lipidtherapie in einem Rattenmodell der Charcot-Marie-Tooth 1A Neuropathie." In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685005.

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Rudnik-Schöneborn, S., and M. Elbracht. "Schwangerschaft und Geburt bei Frauen mit Charcot-Marie-Tooth Neuropathie." In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685010.

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Fledrich, R., T. Prukop, S. Fritzsch, et al. "Biomarker und Therapieansätze bei der Charcot-Marie-Tooth Erkrankung (CMT)." In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685012.

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Teixeira, Elaine Calumby, Camila Rodrigues Nepomuceno, Maria Sheila Guimarães Rocha, and Eduardo de Paula Estephan. "Charcot-Marie-Tooth type 1F with bi-allelic NEFL mutation." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.628.

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Introduction: Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, with a diverse phenotypic and genotypic spectrum. The main clinical features are onset during infancy, slowly progressing symptoms and foot deformities, especially if there is a positive family history, although the lack of family awareness can be present. Over 70 distinct genes have been associated, however, their genetic diagnosis can be challenging, especially if we consider the fact that the same gene can transmit disease either dominantly or recessively. The aim to describe a case of CMT1F as a rare
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Cruz, Cristiani Rocha Lima, Ana Beatriz Arruda Carvalho Oliveira, Renata Silva Mendonça, et al. "PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease." In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774516.

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Roriz, D., D. Gonçalves, J. Brandão, et al. "ESRA19-0347 Charcot-marie-tooth and analgesia for labor- case report." In Abstracts of the European Society of Regional Anesthesia, September 11–14, 2019. BMJ Publishing Group Ltd, 2019. http://dx.doi.org/10.1136/rapm-2019-esraabs2019.203.

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Dias, Heike Felipe Rangel, Fernando Ribeiro Araujo, Lorena Lara Santiago Ros Lopes, and Lucas Franklin Rocha de Souza. "Charcot-Marie-Tooth foot in children: Early diagnosis and orthopedic management." In III Seven International Medical and Nursing Congress. Seven Congress, 2024. http://dx.doi.org/10.56238/iiicongressmedicalnursing-054.

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Charcot-Marie-Tooth disease (CMT) is an inherited neuropathy that affects the peripheral nerves, resulting in foot deformities and impaired mobility in children. Early diagnosis is essential to prevent disease progression and to allow orthopedic interventions that improve function and quality of life. This paper reviews the initial clinical manifestations of CMT, diagnostic approaches, and the main orthopedic management strategies, highlighting the importance of early intervention with the use of orthoses and, when necessary, surgical techniques. The review also explores the prospects for func
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Youshikawa, Gilberto Toshimitsu, Roberta Vilela Lopes Koyama, Jessica Batista Lima Logrado, et al. "CHARCOT-MARIE-TOOTH DISEASE ASSOCIATED WITH DERMATOMYOSITIS: AN UNPREDICTABLE ASSOCIATION?- CASE REPORT." In XL Congresso Brasileiro de Reumatologia. Sociedade Brasileiro de Reumatologia, 2023. http://dx.doi.org/10.47660/cbr.2023.2591.

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