Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 49 Records) |
Query Trace: Myotonic Dystrophy[original query] |
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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 |
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 |
CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2010 Dec 17 (12): 1520-2. Theerasasawat S, Papsing C, Pulkes |
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 |
Mechanisms of statin-induced myalgia assessed by physiogenomic associations. Atherosclerosis 2011 Oct 218 (2): 451-6. Ruaño Gualberto, Windemuth Andreas, Wu Alan H B, Kane John P, Malloy Mary J, Pullinger Clive R, Kocherla Mohan, Bogaard Kali, Gordon Bruce R, Holford Theodore R, Gupta Ankur, Seip Richard L, Thompson Paul |
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 |
[Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakuts and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy]. Genetika 2015 Jun 51 (6): 724-32. Swarovskaya M G, Stepanova S K, Marussin A V, Sukhomyasova A L, Maximova N R, Stepanov V |
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. European journal of human genetics : EJHG 2015 Jun . Bissay Véronique, Van Malderen Sophie C H, Keymolen Kathelijn, Lissens Willy, Peeters Uschi, Daneels Dorien, Jansen Anna C, Pappaert Gudrun, Brugada Pedro, De Keyser Jacques, Van Dooren Son |
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 |
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. Neuroepidemiology 2016 Feb 46 (3): 191-197. Vanacore Nicola, Rastelli Emanuele, Antonini Giovanni, Bianchi Maria Laura Ester, Botta Annalisa, Bucci Elisabetta, Casali Carlo, Costanzi-Porrini Sandro, Giacanelli Manlio, Gibellini Manuela, Modoni Anna, Novelli Giuseppe, Pennisi Elena Maria, Petrucci Antonio, Piantadosi Carlo, Silvestri Gabriella, Terracciano Chiara, Massa Rober |
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 type1: 13years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation. Neurologia 2021 5 . Sánchez Marín J P, Sienes Bailo P, Lahoz Alonso R, Capablo Liesa J L, Gazulla Abio J, Giménez Muñoz J A, Modrego Pardo P J, Pardiñas Barón B, Izquierdo Álvarez |
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 |
Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study. Reproductive biology and endocrinology : RB&E 2024 1 22 (1): 8. Ilana Weizel, Tal Shavit, Yulia Shuli, Chana Adler Lazarovich, Rivka Halevi, Tal Ben Ari, Shira Yaacobi-Artzi, Yaakov Bentov, Baruch Feldman, Anat Hershko Kleme |
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- Page last updated:Apr 22, 2024
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