Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 41 Records) |
| Query Trace: Myotonic Dystrophy Type 2[original query] |
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| Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology 2006 Apr 66 (8): 1248-50. Arsenault M-E, Prévost C, Lescault A, Laberge C, Puymirat J, Mathieu |
| The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. Clinical genetics 2007 Jan 71 (1): 59-66. Laberge L, Veillette S, Mathieu J, Auclair J, Perron |
| High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. Journal of neurology 2008 Nov 255 (11): 1731-6. Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmüller H, Kress W, Udd |
| CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2008 May 35 (2): 216-9. Shojasaffar Bahareh, Moradin Neda, Kahrizi Kimia, Cobo Ana Maria, Najmabadi Hosse |
| Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. Arthritis and rheumatism 2008 Nov 58 (11): 3627-31. Auvinen Satu, Suominen Tiina, Hannonen Pekka, Bachinski Linda L, Krahe Ralf, Udd Bjar |
| Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2008 Dec 27 82-9. Rinaldi F, Botta A, Vallo L, Contino G, Morgante A, Iraci R, Catalli C, Silvestri G, Ventriglia V M, Politano L, Novelli |
| Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans. The Korean journal of laboratory medicine 2008 Dec 28 (6): 483-92. Kim So Yeon, Kim Ji Yeon, Kim Gyoung Pyoung, Sung Jung-Jun, Lim Kyu Sang, Lee Kwang-Woo, Chae Jong Hee, Hong Yoon-Ho, Seong Moon-Woo, Park Sung S |
| Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2). The Journal of molecular diagnostics : JMD 2010 Sep 12 (5): 601-6. Catalli Claudio, Morgante Alessandra, Iraci Raniero, Rinaldi Fabrizio, Botta Annalisa, Novelli Giusep |
| Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population. Annals of clinical and laboratory science 2010 40 (2): 156-62. Kwon Min-Jung, Lee Seung-Tae, Kim Byoung Joon, Sung Duk Hyun, Kim Jong-Won, Ki Chang-Se |
| Myotonic dystrophy type 1 and PGD: ovarian stimulation response and correlation analysis between ovarian reserve and genotype. Reproductive biomedicine online 2010 May 20 (5): 610-8. Dechanet C, Castelli C, Reyftmann L, Coubes C, Hamamah S, Hedon B, Dechaud H, Anahory |
| Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. Neuromuscular disorders : NMD 2011 1 21 (4): 272-8. Smits Bart W, Fermont Jiske, Delnooz Cathérine C S, Kalkman Joke S, Bleijenberg Gijs, van Engelen Baziel G |
| Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype. European journal of human genetics : EJHG 2011 1 19 (5): 567-70. Coenen Marieke J H, Tieleman Alide A, Schijvenaars Mascha M V A P, Leferink Maike, Ranum Laura P W, Scheffer Hans, van Engelen Baziel G |
| MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1. Journal of neurology 2012 Nov . Huin V, Vasseur F, Schraen-Maschke S, Dhaenens CM, Devos P, Dupont K, Sergeant N, Buée L, Lacour A, Hofmann-Radvanyi H, Sablonnière B |
| Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease. Journal of the Royal Society, Interface / the Royal Society 2013 Nov 10 (88): 20130605. Higham Catherine F, Monckton Darren |
| Haplotype analysis and LD detection at DM1 locus. Gene 2015 Aug 567 (1): 45-50. Kumar Ashok, Agarwal Sarita, Pradhan Sun |
| A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients. DNA repair 2016 Mar 40 57-66. Morales Fernando, Vásquez Melissa, Santamaría Carolina, Cuenca Patricia, Corrales Eyleen, Monckton Darren |
| Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. Investigative ophthalmology & visual science 2017 Sep 58 (11): 4579-4585. Mootha V Vinod, Hansen Brock, Rong Ziye, Mammen Pradeep P, Zhou Zhengyang, Xing Chao, Gong X |
| Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution. Neuromuscular disorders : NMD 2017 10 27 (12): 1106-1114. Murillo-Melo N M, Márquez-Quiróz L C, Gómez R, Orozco L, Mendoza-Caamal E, Tapia-Guerrero Y S, Camacho-Mejorado R, Cortés H, López-Reyes A, Santana C, Noris G, Hernández-Hernández O, Cisneros B, Magaña J |
| Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. Investigative ophthalmology & visual science 2018 Jun 59 (7): 3053-3057. Winkler Nelson S, Milone Margherita, Martinez-Thompson Jennifer M, Raja Harish, Aleff Ross A, Patel Sanjay V, Fautsch Michael P, Wieben Eric D, Baratz Keith |
| Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1. Korean journal of pediatrics 2018 Sep . Kim Hyeong Jung, Na Ji-Hoon, Lee Young-Mo |
| MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain : a journal of neurology 2019 6 142 (7): 1876-86. Flower Michael, Lomeikaite Vilija, Ciosi Marc, Cumming Sarah, Morales Fernando, Lo Kitty, Hensman Moss Davina, Jones Lesley, Holmans Peter, , , Monckton Darren G, Tabrizi Sarah |
| Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. PloS one 2019 5 14 (5): e0216407. Corrales Eyleen, Vásquez Melissa, Zhang Baili, Santamaría-Ulloa Carolina, Cuenca Patricia, Krahe Ralf, Monckton Darren G, Morales Fernan |
| Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset. Human molecular genetics 2020 7 29 (15): 2496-2507. Morales Fernando, Vásquez Melissa, Corrales Eyleen, Vindas-Smith Rebeca, Santamaría-Ulloa Carolina, Zhang Baili, Sirito Mario, Estecio Marcos R, Krahe Ralf, Monckton Darren |
| Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations. European journal of human genetics : EJHG 2020 3 28 (7): 956-962. Joosten Isis B T, Hellebrekers Debby M E I, de Greef Bianca T A, Smeets Hubert J M, de Die-Smulders Christine E M, Faber Catharina G, Gerrits Monique |
| Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration. Neuropathology and applied neurobiology 2021 5 47 (7): 1092-1108. Jimenez-Marin Antonio, Diez Ibai, Labayru Garazi, Sistiaga Andone, Caballero Maria C, Andres-Benito Pol, Sepulcre Jorge, Ferrer Isidro, Lopez de Munain Adolfo, Cortes Jesus |
| Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2. Journal of neuromuscular diseases 2021 May . Damen M J, Schijvenaars M M V A P, Schimmel Naber A M, Groothuismink J M, Coenen M J H, Tieleman A |
| Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation. Neurologia 2023 7 . J P Sánchez Marín, P Sienes Bailo, R Lahoz Alonso, J L Capablo Liesa, J Gazulla Abio, J A Giménez Muñoz, P J Modrego Pardo, B Pardiñas Barón, S Izquierdo Álvar |
| Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis. Pediatric neurology 2024 9 161 9-17. Carlos Pascual-Morena, Iván Cavero-Redondo, Alicia Saz-Lara, Irene Martínez-García, María Eugenia Visier-Alfonso, Vicente Martínez-Vizcaí |
| Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. Postepy psychiatrii neurologii 2024 8 33 (2): 109-114. Wiktoria Radziwonik-Fr?czyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona St?pniak, Marta Lipowska, Anna Potulska-Chromik, Anna Su? |
| Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. Neurogenetics 2024 5 . Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, Jacek Pilch, Karolina Ziora-Jakutowicz, Jolanta Kubalska, Dominika Szczesniak, Iwona Stepniak, Jacek Zaremba, Anna Sul |
- Page last reviewed:Feb 1, 2024
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