PMC Links for Books (Select 1480088) - PMC

Select item 81171691.

Guidelines on clinical presentation and management of nondystrophic myotonias

Bas C. Stunnenberg, Samantha LoRusso, W. David Arnold, Richard J. Barohn, Stephen C. Cannon, Bertrand Fontaine, Robert C. Griggs, Michael G. Hanna, Emma Matthews, Giovanni Meola, Valeria A. Sansone, Jaya R. Trivedi, Baziel G.M. van Engelen, Savine Vicart, Jeffrey M. Statland

Muscle Nerve. Author manuscript; available in PMC 2021 May 13.

Published in final edited form as: Muscle Nerve. 2020 Oct; 62(4): 430–444. Published online 2020 May 27. doi: 10.1002/mus.26887

PMCID:: PMC8117169

Article PDF–518K

Select item 80686602.

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients

Noemi Vereb, Federica Montagnese, Dieter Gläser, Benedikt Schoser

J Neurol. 2021; 268(5): 1708–1720. Published online 2020 Dec 2. doi: 10.1007/s00415-020-10328-1

PMCID:: PMC8068660

Article PDF–857K

Select item 72244713.

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou, Xiaoliu Shi

PLoS One. 2020; 15(5): e0233017. Published online 2020 May 14. doi: 10.1371/journal.pone.0233017

PMCID:: PMC7224471

Article PDF–1.3M

Select item 70160954.

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano

Front Neurol. 2020; 11: 63. Published online 2020 Feb 6. doi: 10.3389/fneur.2020.00063

PMCID:: PMC7016095

Article PDF–483K

Select item 60187045.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

David J. Coote, Mark R. Davis, Macarena Cabrera, Merrilee Needham, Nigel G. Laing, Kristen J. Nowak

Eur J Hum Genet. 2018 Jul; 26(7): 1072–1077. Published online 2018 Apr 26. doi: 10.1038/s41431-017-0065-3

PMCID:: PMC6018704

Article PDF–408K

Select item 54293606.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Article PDF–1.1M

Select item 47319257.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 38596319.

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová

PLoS One. 2013; 8(12): e82549. Published online 2013 Dec 11. doi: 10.1371/journal.pone.0082549

PMCID:: PMC3859631

Article PDF–509K

Select item 366236110.

Prevalence study of genetically defined skeletal muscle channelopathies in England

Alejandro Horga, Dipa L. Raja Rayan, Emma Matthews, Richa Sud, Doreen Fialho, Siobhan C.M. Durran, James A. Burge, Simona Portaro, Mary B. Davis, Andrea Haworth, Michael G. Hanna

Neurology. 2013 Apr 16; 80(16): 1472–1475. doi: 10.1212/WNL.0b013e31828cf8d0

PMCID:: PMC3662361

Article PDF–138K

Select item 356422711.

Mexiletine for Symptoms and Signs of Myotonia in Non-Dystrophic Myotonia: A Randomized Controlled Trial

Jeffrey M Statland, Brian N Bundy, Yunxia Wang, Dipa Raja Rayan, Jaya R Trivedi, Valeria A Sansone, Mohammad K Salajegheh, Shannon L. Venance, Emma Ciafaloni, Emma Matthews, Giovanni Meola, Laura Herbelin, Robert C Griggs, Richard J Barohn, Michael G Hanna, the Consortium for Clinical Investigation of Neurologic Channelopathies

JAMA. Author manuscript; available in PMC 2013 Apr 3.

Published in final edited form as: JAMA. 2012 Oct 3; 308(13): 1357–1365. doi: 10.1001/jama.2012.12607

PMCID:: PMC3564227

Article PDF–538K

Select item 305142112.

Refined Exercise testing can aid DNA-based Diagnosis in Muscle Channelopathies

S. Veronica Tan, Emma Matthews, Melissa Barber, James A Burge, Sanjeev Rajakulendran, Doreen Fialho, Richa Sud, Andrea Haworth, Martin Koltzenburg, Michael G Hanna

Ann Neurol. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Ann Neurol. 2011 Feb; 69(2): 328–340. doi: 10.1002/ana.22238

PMCID:: PMC3051421

Article PDF–1.0M

Select item 191453513.

Novel muscle chloride channel mutations and their effects on heterozygous carriers.

V. Mailänder, R. Heine, F. Deymeer, F. Lehmann-Horn

Am J Hum Genet. 1996 Feb; 58(2): 317–324.

PMCID:: PMC1914535

Summary Page Browse PDF–1.9M

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