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63 results for Charcot-Marie-Tooth+Disease+-+classification

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ArticlesPeer ReviewedFull Text
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
Author / Creator:Fridman, V ; Bundy, B ; Reilly, M M ; Pareyson, D ; Bacon, C ; Burns, J ; Day, J ; Feely, S ; Finkel, R S ; Grider, T ; Kirk, C A ; Herrmann, D N ; Laurá, M ; Li, J ; Lloyd, T ; Sumner, C J ; Muntoni, F ; Piscosquito, G ; Ramchandren, S ; Shy, R ; Siskind, C E ; Yum, S W ; Moroni, I ; Pagliano, E ; Zuchner, S ; Scherer, S S ; Shy, M E
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2015-08, Vol.86 (8), p.873-878
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Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
Author / Creator:Murphy, Sinead M ; Laura, Matilde ; Fawcett, Katherine ; Pandraud, Amelie ; Liu, Yo-Tsen ; Davidson, Gabrielle L ; Rossor, Alexander M ; Polke, James M ; Castleman, Victoria ; Manji, Hadi ; Lunn, Michael P T ; Bull, Karen ; Ramdharry, Gita ; Davis, Mary ; Blake, Julian C ; Houlden, Henry ; Reilly, Mary M
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2012-07, Vol.83 (7), p.706-710
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Charcot–Marie–Tooth diseases: an update and some new proposals for the classification
Author / Creator:Mathis, Stéphane ; Goizet, Cyril ; Tazir, Meriem ; Magdelaine, Corinne ; Lia, Anne-Sophie ; Magy, Laurent ; Vallat, Jean-Michel
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-10, Vol.52 (10), p.681-690
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Charcot–Marie–Tooth disease
Author / Creator:Szigeti, Kinga ; Lupski, James R
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.703-710
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Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease
Author / Creator:Kitani-Morii, Fukiko ; Noto, Yu-ichi
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-10, Vol.21 (19), p.7419
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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
Author / Creator:Baxter, Rachel V. ; Ben Othmane, Kamel ; Rochelle, Julie M. ; Stajich, Jason E. ; Hulette, Christine ; Dew-Knight, Susan ; Hentati, Faycal ; Ben Hamida, Mongi ; Bel, S. ; Stenger, Judy E. ; Gilbert, John R. ; Pericak-Vance, Margaret A. ; Vance, Jeffery M.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-01, Vol.30 (1), p.21-22
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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
Author / Creator:Cuesta, Ana ; Pedrola, Laia ; Sevilla, Teresa ; García-Planells, Javier ; Chumillas, María José ; Mayordomo, Fernando ; LeGuern, Eric ; Marín, Ignacio ; Vílchez, Juan J. ; Palau, Francesc
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-01, Vol.30 (1), p.22-25
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Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes
Author / Creator:Michaelidou, Kleita ; Tsiverdis, Ioannis ; Erimaki, Sophia ; Papadimitriou, Dimitra ; Amoiridis, Georgios ; Papadimitriou, Alexandros ; Mitsias, Panayiotis ; Zaganas, Ioannis
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1141-n/a
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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
Author / Creator:Bomont, Pascale ; Cavalier, Laurent ; Blondeau, François ; Hamida, Christiane Ben ; Belal, Samir ; Tazir, Meriem ; Demir, Ercan ; Topaloglu, Haluk ; Korinthenberg, Rudolf ; Tüysüz, Beyhan ; Landrieu, Pierre ; Hentati, Fayçal ; Koenig, Michel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-11, Vol.26 (3), p.370-374
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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2
Author / Creator:McCorquodale, Donald S. ; Montenegro, Gladys ; Peguero, Ainsley ; Carlson, Nicole ; Speziani, Fiorella ; Price, Justin ; Taylor, Sean W. ; Melanson, Michel ; Vance, Jeffery M. ; Züchner, Stephan
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2011-07, Vol.258 (7), p.1234-1239
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Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease
Author / Creator:Pareyson, D. ; Scaioli, V. ; Laurà, M.
Publisher:United States
Journal title:Neuromolecular medicine, 2006-03, Vol.8 (1-2), p.3-22
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Diagnosis of Charcot-Marie-Tooth Disease
Author / Creator:Banchs, Isabel ; Casasnovas, Carlos ; Albertí, Antonia ; De Jorge, Laura ; Povedano, Mònica ; Montero, Jordi ; Martínez-Matos, Juan Antonio ; Volpini, Victor
Publisher:Cairo, Egypt: Hindawi Puplishing Corporation
Journal title:BioMed research international, 2009-01, Vol.2009 (2009), p.1-10
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Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot‐Marie‐Tooth type 4A disease
Author / Creator:Pedrola, Laia ; Espert, Antonio ; Valdés‐Sánchez, Teresa ; Sánchez‐Piris, Maribel ; Sirkowski, Erich E. ; Scherer, Steven S. ; Fariñas, Isabel ; Palau, Francesc
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Journal of cellular and molecular medicine, 2008-04, Vol.12 (2), p.679-689
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Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
Author / Creator:Dubourg, O. ; Azzedine, H. ; Verny, C. ; Durosier, G. ; Birouk, N. ; Gouider, R. ; Salih, M. ; Bouhouche, A. ; Thiam, A. ; Grid, D. ; Mayer, M. ; Ruberg, M. ; Tazir, M. ; Brice, A. ; LeGuern, E.
Publisher:United States
Journal title:Neuromolecular medicine, 2006-03, Vol.8 (1-2), p.75-85
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Intermediate forms of Charcot-Marie-Tooth neuropathy: A review
Author / Creator:Nicholson, Garth ; Myers, Simon
Publisher:United States: Springer Nature B.V
Journal title:Neuromolecular medicine, 2006-03, Vol.8 (1-2), p.123-130
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Ultrasound-guided peripheral regional blockade in patients with Charcot-Marie-Tooth disease: a review of three cases
Author / Creator:Dhir, Shalini ; Balasubramanian, Shyam ; Ross, Douglas
Publisher:New York: Springer-Verlag
Journal title:Canadian journal of anesthesia, 2008-08, Vol.55 (8), p.515-520
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Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
Author / Creator:Mandich, Paola ; Fossa, Paola ; Capponi, Simona ; Geroldi, Alessandro ; Acquaviva, Massimo ; Gulli, Rossella ; Ciotti, Paola ; Manganelli, Fiore ; Grandis, Marina ; Bellone, Emilia
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2009-09, Vol.17 (9), p.1129-1134
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Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease
Author / Creator:Berciano, José
Publisher:England: Nature Publishing Group
Journal title:Nature reviews. Neurology, 2011-06, Vol.7 (6), p.305-306
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Myotubularin-Related (MTMR) Phospholipid Phosphatase Proteins in the Peripheral Nervous System
Author / Creator:Bolis, Annalisa ; Zordan, Paola ; Coviello, Silvia ; Bolino, Alessandra
Publisher:United States: Springer Nature B.V
Journal title:Molecular neurobiology, 2007-06, Vol.35 (3), p.308-316
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Novel human pathological mutations. Gene symbol: GDAP1. Disease: Charcot-Marie-Tooth disease 4A
Author / Creator:Sahin-Calapoglu, Nilufer ; Soyoz, Mustafa ; Tan, Meliha ; Calapoglu, Mustafa ; Ozcelik, Nurten
Publisher:Germany
Journal title:Human genetics, 2009-04, Vol.125 (3), p.342-342
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Showing 1 to 20 of 63 results

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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

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Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

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Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

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Charcot–Marie–Tooth disease

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Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease

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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

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Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

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Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

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Diagnosis of Charcot-Marie-Tooth Disease

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Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot‐Marie‐Tooth type 4A disease

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Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

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Intermediate forms of Charcot-Marie-Tooth neuropathy: A review

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Ultrasound-guided peripheral regional blockade in patients with Charcot-Marie-Tooth disease: a review of three cases

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Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

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Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease

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Myotubularin-Related (MTMR) Phospholipid Phosphatase Proteins in the Peripheral Nervous System

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Novel human pathological mutations. Gene symbol: GDAP1. Disease: Charcot-Marie-Tooth disease 4A

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