HuGE Literature Finder
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Records 1-23
Relative frequency of inherited retinal dystrophies in Brazil.
Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
Chinese medical journal 2018 Jan 131 (2): 151-155. Zhao Xin, Jiang Ming-Ming, Yan Yi-Zhou, Liu Lei, Xie Yong-Zhi, Li Xiao-Bo, Hu Zheng-Mao, Zi Xiao-Hong, Xia Kun, Tang Bei-Sha, Zhang Ru- |
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017 Mar . Lorena Lorefice, Rita Murru M, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu, Jessica Frau, Stefania Tranquilli, Paolo Tacconi, Alessandro Vannelli, Giovanni Marrosu, Elena Mamusa, Eleonora Cocco, Giovanna Marrosu |
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
Journal of the peripheral nervous system : JPNS 2016 Nov . Sun Bo, Chen Zhaohui, Ling Li, Yang Fei, Huang Xushe |
CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.
Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
JAMA neurology 2016 Apr . Cornett Kayla Md, Menezes Manoj P, Bray Paula, Halaki Mark, Shy Rosemary R, Yum Sabrina W, Estilow Timothy, Moroni Isabella, Foscan Maria, Pagliano Emanuela, Pareyson Davide, Laurá Matilde, Bhandari Trupti, Muntoni Francesco, Reilly Mary M, Finkel Richard S, Sowden Janet, Eichinger Katy J, Herrmann David N, Shy Michael E, Burns Joshua, |
Visual Acuity after Retinal Gene Therapy for Choroideremia.
The New England journal of medicine 2016 Apr . Edwards Thomas L, Jolly Jasleen K, Groppe Markus, Barnard Alun R, Cottriall Charles L, Tolmachova Tanya, Black Graeme C, Webster Andrew R, Lotery Andrew J, Holder Graham E, Xue Kanmin, Downes Susan M, Simunovic Matthew P, Seabra Miguel C, MacLaren Robert |
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Brain and behavior 2016 Mar e00451. Werheid Friederike, Azzedine Hamid, Zwerenz Eva, Bozkurt Ahmet, Moeller Marcus J, Lin Lilian, Mull Michael, Häusler Martin, Schulz Jörg B, Weis Joachim, Claeys Kristl |
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
PloS one 2016 11 (4): e0151943. Sanchez-Alcudia Rocio, Garcia-Hoyos Maria, Lopez-Martinez Miguel Angel, Sanchez-Bolivar Noelia, Zurita Olga, Gimenez Ascension, Villaverde Cristina, Rodrigues-Jacy da Silva Luciana, Corton Marta, Perez-Carro Raquel, Torriano Simona, Kalatzis Vasiliki, Rivolta Carlo, Avila-Fernandez Almudena, Lorda Isabel, Trujillo-Tiebas Maria J, Garcia-Sandoval Blanca, Lopez-Molina Maria Isabel, Blanco-Kelly Fiona, Riveiro-Alvarez Rosa, Ayuso Carm |
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Scientific reports 2016 6 29088. Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch |
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
Investigative ophthalmology & visual science 2015 Dec 56 (13): 8158-65. Zhang Alice Yang, Mysore Naveen, Vali Hojatollah, Koenekoop Jamie, Cao Sang Ni, Li Shen, Ren Huanan, Keser Vafa, Lopez-Solache Irma, Siddiqui Sorath Noorani, Khan Ayesha, Mui Jeannie, Sears Kelly, Dixon Jim, Schwartzentruber Jeremy, Majewski Jacek, Braverman Nancy, Koenekoop Robert |
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
Clinica chimica acta; international journal of clinical chemistry 2015 Oct . Wang Rui, He Jin, Li Jing-Jin, Ni Wang, Wu Zhi-Ying, Chen Wan-Jin, Wang |
Genetic analysis of choroideremia families in the Australian population.
Clinical & experimental ophthalmology 2015 Apr . McLaren Terri L, De Roach John N, Montgomery Hannah, Hoffmann Ling, Kap Caitlyn, Lamey Tina |
Copy number variations in a population-based study of Charcot-Marie-Tooth disease.
BioMed research international 2015 2015 960404. Høyer Helle, Braathen Geir J, Eek Anette K, Nordang Gry B N, Skjelbred Camilla F, Russell Michael |
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.
Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences 2015 53 (3): 270-4. Madej-Pilarczyk A, Kotruchow K, Kabzinska D, Cegielska J, Kochanski A, Hausmanowa-Petrusewicz |
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal charcot-marie-tooth disease.
Neuromolecular medicine 2014 Sep 16 (3): 540-50. Bergamin Giorgia, Boaretto Francesca, Briani Chiara, Pegoraro Elena, Cacciavillani Mario, Martinuzzi Andrea, Muglia Maria, Vettori Andrea, Vazza Giovanni, Mostacciuolo Maria Lui |
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
Journal of human genetics 2011 May 56 (5): 364-8. Abe Akiko, Numakura Chikahiko, Kijima Kazuki, Hayashi Makiko, Hashimoto Taeko, Hayasaka Kiyos |
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
European journal of human genetics : EJHG 2009 Sep 17 (9): 1129-34. Mandich Paola, Fossa Paola, Capponi Simona, Geroldi Alessandro, Acquaviva Massimo, Gulli Rossella, Ciotti Paola, Manganelli Fiore, Grandis Marina, Bellone Emil |
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
European journal of human genetics : EJHG 2009 Sep 17 (9): 1154-9. Miltenberger-Miltenyi Gabriel, Schwarzbraun Thomas, Löscher Wolfgang N, Wanschitz Julia, Windpassinger Christian, Duba Hans-Christoph, Seidl Rainer, Albrecht Gerhard, Weirich-Schwaiger Helga, Zoller Heinz, Utermann Gerd, Auer-Grumbach Michaela, Janecke Andreas |
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
Journal of the neurological sciences 2004 Apr 219 (1-2): 95-100. Lee Yi-Chung, Soong Bing-Wen, Lin Kon-Ping, Lee Hsiang-Ying, Wu Zin-An, Kao Ker-P |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Annals of neurology 2002 Feb 51 (2): 190-201. Boerkoel Cornelius F, Takashima Hiroshi, Garcia Carlos A, Olney Richard K, Johnson John, Berry Katherine, Russo Paul, Kennedy Shelley, Teebi Ahmad S, Scavina Mena, Williams Lowell L, Mancias Pedro, Butler Ian J, Krajewski Karen, Shy Michael, Lupski James |
Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Genetics in medicine : official journal of the American College of Medical Genetics 0 3 (5): 335-42. Takashima H, Boerkoel C F, Lupski J |
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- Page last updated:Dec 5, 2019
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