Ne maps during the duplication in chromosome 17p11.two connected with Charcot-Marie-Tooth > 자유게시판

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Ne maps during the duplication in chromosome 17p11.two connected with …

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작성자 Kaley Godinez 작성일24-05-06 04:39 조회1회 댓글0건

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Ne maps within the duplication Marimastat in chromosome 17p11.two related with Charcot-Marie-Tooth 1A. Nat Genet 1992, 1:176?seventy nine. 21. Skre H: Genetic and scientific aspects of Charcot-Marie-Tooth's disorder. Clin Genet 1974, 6:ninety eight?eighteen. 22. Braathen GJ, Sand JC, Lobato A, Hoyer H, Russell MB: Genetic epidemiology of Charcot-Marie-Tooth in the standard populace. Eur J Neurol 2011, 18:39?8. 23. Foley C, Schofield I, Eglon G, Bailey G, Chinnery PF, Horvath R: CharcotMarie-Tooth disorder in Northern England. J Neurol Neurosurg Psychiatry 2012, eighty three:572?73. 24. Nicolaou P, Zamba-Papanicolaou E, Koutsou P, Kleopa KA, Georghiou A, Hadjigeorgiou G, Papadimitriou A, Kyriakides T, Christodoulou K: CharcotMarie-Tooth illness in Cyprus: epidemiological, clinical and genetic traits. Neuroepidemiology 2010, 35:171?77. twenty five. Karadima G, Floroskufi P, Koutsis G, Vassilopoulos D, Panas M: Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type one neuropathy individuals. Clin Genet 2011, eighty:497?ninety nine. 26. Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, Bradley JL, Muddle JR, Tyson J, Malcolm S, Harding AE: The phenotypic manifestations of chromosome 17p11.2 duplication. Mind 1997, 120(3):465?78. 27. Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P: Charcot-Marie-Tooth ailment PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/12711626 kind 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype research and variables influencing illness severity in 119 instances. Mind 1997, 120:813?23. 28. Marques W Jr, Freitas MR, Nascimento OJ, Oliveira AB, Calia L, Melo A, Lucena R, Rocha V, Barreira AA: 17p duplicated Charcot-Marie-Tooth 1A Characteristics of a new population. J Neurol 2005, 252:972?seventy nine. 29. Bienfait HM, Verhamme C, Van Schaik IN, Koelman JH, De Visser BW, De Haan RJ, Baas F, Van Engelen BG, De Visser M: Comparison of CMT1A and CMT2: similarities and discrepancies. J Neurol 2006, 253:1572?580.thirty. Berciano J, Garcia A, Combarros O: First semeiology in youngsters with Charcot-Marie-Tooth condition 1A duplication. Muscle Nerve 2003, 27:34?nine. 31. Baets J, Deconinck T, De Vriendt E, Zimon M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernea G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzinska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/8627573 Timmerman V, De Jonghe P: Genetic spectrum of hereditary neuropathies with onset within the 1st calendar year of lifestyle. Brain 2011, 134:2664?676. 32. Abe Y, Ikegami T, Hayasaka K, Tanno Y, Watanabe T, Sugiyama Y, Yamamoto T: Tension palsy since the preliminary presentation inside of a circumstance of late-onset Charcot-Marie-Tooth illness kind 1A. Intern Med 1997, 36:501?03. 33. Lupski JR, Opportunity PF: Hereditary Motor and Sensory Neuropathies Involving Altered Dosage or Mutation of PMP22: The CMT1A Duplication and HNPP Deletion. In Peripheral Neuropathy. Fourthth edition. Edited by Dyck PJ, Thomas PK. Philadelphia: Elsevier Saunders; 2005:1659?680. 34. Hoogendijk JE, De Visser M, Bolhuis PA, Hart AA, Ongerboer de Visser BW: Hereditary motor and sensory neuropathy sort I: clinical and neurographical capabilities on the 17p duplication subtype. Muscle Nerve 1994, seventeen:eighty five?0. 35. Verhamme C, Van Schaik IN, Koelman JHTM, De Haan RJ, De Visser M: The normal record of Charcot-Marie-Tooth type 1A in grown ups: a 5-year follow-up study. Brain 2009, 132:3252?262. 36. Videler AJ, Beelen A, Van Schaik IN, De Visser.

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