2,269
Views
55
CrossRef citations to date
0
Altmetric
Review Article

Genetics of neuromuscular disorders

Pages 33-48 | Received 22 Nov 2011, Accepted 16 Jan 2012, Published online: 02 Apr 2012

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (1)

Melissa T. Carter, Hugh J. McMillan, Andriy Tomin & Norbert Weiss. (2019) Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Channels 13:1, pages 153-161.
Read now

Articles from other publishers (54)

Seham Eshrif, Suhaylah Alghareeri, Fatma BenAmer & Sondos Elsheikh. (2023) Profile of Neuromuscular Disorders: Neurology Clinic, Tripoli Children Hospital. Ibnosina Journal of Medicine and Biomedical Sciences.
Crossref
Firouzeh Morshedzadeh, Mahmoud Ghanei, Malihe Lotfi, Morteza Ghasemi, Mohsen Ahmadi, Parisa Najari-Hanjani, Samaneh Sharif, Sina Mozaffari-Jovin, Maryam Peymani & Mohammad Reza Abbaszadegan. (2023) An Update on the Application of CRISPR Technology in Clinical Practice. Molecular Biotechnology.
Crossref
Humera Manzoor, Hafsa Zahid, Christopher A. Emerling, Kishore R. Kumar, Hafiz Muhammad Jafar Hussain, Go Hun Seo, Muhammad Wajid & Sadaf Naz. (2023) A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans. European Journal of Human Genetics 31:6, pages 629-637.
Crossref
Ursula Moore, Sarah Shira Emmons, Laura Rufibach, V Straub, Jordi Diaz-Manera & Michela Guglieri. (2023) Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases. Neuromuscular Disorders 33:3, pages 241-249.
Crossref
Hongkyung Kim, Yeeun Shim, Taek Gyu Lee, Dongju Won, Jong Rak Choi, Saeam Shin & Seung‐Tae Lee. (2022) Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations. Clinical Genetics 103:1, pages 35-44.
Crossref
Anita Malik & Namisha Goyal. 2023. Clinical Anesthesia for the Newborn and the Neonate. Clinical Anesthesia for the Newborn and the Neonate 349 361 .
C.D. Dechow, E. Frye & F.P. Maunsell. (2022) Identification of a putative haplotype associated with recumbency in Holstein calves. JDS Communications 3:6, pages 412-415.
Crossref
Katherine E. Koczwara, Nicole J. Lake, Alec M. DeSimone & Monkol Lek. (2022) Neuromuscular disorders: finding the missing genetic diagnoses. Trends in Genetics 38:9, pages 956-971.
Crossref
Sofia Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, Álvaro Hermida-Ameijeiras, Paula Sánchez-Pintos, Maria José de Castro, Soraya Ramiro León, Belén Gil-Fournier, Cristina Domínguez-González, Ana Camacho Salas, Luis Negrão, Isabel Fineza, Francisco Laranjeira & Maria Luz Couce. (2022) Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies. Journal of Clinical Medicine 11:10, pages 2750.
Crossref
Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague & J. Andoni Urtizberea. (2022) A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. Journal of Neuromuscular Diseases 9:1, pages 193-210.
Crossref
Khaoula Rochdi, Mathieu Cerino, Nathalie Da Silva, Valerie Delague, Aymane Bouzidi, Halima Nahili, Ghizlane Zouiri, Yamna Kriouile, Svetlana Gorokhova, Marc Bartoli, Rachid Saïle, Abdelhamid Barakat & Martin Krahn. (2022) Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder. Clinica Chimica Acta 524, pages 51-58.
Crossref
Malihe Mohamadian, Mandana Rastegar, Negin Pasamanesh, Ata Ghadiri, Pegah Ghandil & Mohsen Naseri. (2021) Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview. Journal of Molecular Neuroscience 72:1, pages 9-23.
Crossref
Chiara Gemelli, Monica Traverso, Lucia Trevisan, Sabrina Fabbri, Elena Scarsi, Barbara Carlini, Valeria Prada, Tiziana Mongini, Lucia Ruggiero, Serena Patrone, Salvatore Gallone, Rosa Iodice, Livia Pisciotta, Federico Zara, Paola Origone, Eugenia Rota, Carlo Minetti, Claudio Bruno, Angelo Schenone, Paola Mandich, Chiara Fiorillo & Marina Grandis. (2021) An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia . Muscle & Nerve 65:1, pages 96-104.
Crossref
Nigel G Laing, Royston W. Ong & Gianina Ravenscroft. (2021) Genetic neuromuscular disorders: what is the best that we can do?. Neuromuscular Disorders 31:10, pages 1081-1089.
Crossref
Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, Judith Armstrong, Loreto Martorell, Guerau Fernàndez, Joan Maynou, Cristina Jou, Mònica Roldan, Carlos Ortez, Andrés Nascimento, Janet Hoenicka & Francesc Palau. (2021) The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. International Journal of Molecular Sciences 22:8, pages 4274.
Crossref
Elena Díaz-Santiago, M. Gonzalo Claros, Raquel Yahyaoui, Yolanda de Diego-Otero, Rocío Calvo, Janet Hoenicka, Francesc Palau, Juan A. G. Ranea & James R. Perkins. (2021) Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks. Frontiers in Molecular Biosciences 8.
Crossref
Isabella Herman, Michael A. Lopez, Dana Marafi, Davut Pehlivan, Daniel G. Calame, Farida Abid & Timothy E. Lotze. (2020) Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle & Nerve 63:3, pages 304-310.
Crossref
Aitana Martin-Cantero, Esmee M Reijnierse, Benjamin M T Gill & Andrea B Maier. (2021) Factors influencing the efficacy of nutritional interventions on muscle mass in older adults: a systematic review and meta-analysis. Nutrition Reviews 79:3, pages 315-330.
Crossref
Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. FrancaJrJr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault & Roberto Araujo. (2020) The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Orphanet Journal of Rare Diseases 15:1.
Crossref
Rika Maruyama & Toshifumi Yokota. (2020) Molecular Diagnosis and Novel Therapies for Neuromuscular Diseases. Journal of Personalized Medicine 10:3, pages 129.
Crossref
Tatsuya Osaki, Sebastien G. M. Uzel & Roger D. Kamm. (2020) On-chip 3D neuromuscular model for drug screening and precision medicine in neuromuscular disease. Nature Protocols 15:2, pages 421-449.
Crossref
Enrico Bugiardini, Alaa M. Khan, Rahul Phadke, David S. Lynch, Andrea Cortese, Lucy Feng, Qiang Gang, Alan M. Pittman, Jasper M. Morrow, Chris Turner, Aisling S. Carr, Ros Quinlivan, Alexander M. Rossor, Janice L. Holton, Matt Parton, Julian C. Blake, Mary M. Reilly, Henry Houlden, Emma Matthews & Michael G. Hanna. (2019) Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre. Neuromuscular Disorders 29:10, pages 747-757.
Crossref
Alastair Khodabukus, Lauran Madden, Neel K. Prabhu, Timothy R. Koves, Christopher P. Jackman, Deborah M. Muoio & Nenad Bursac. (2019) Electrical stimulation increases hypertrophy and metabolic flux in tissue-engineered human skeletal muscle. Biomaterials 198, pages 259-269.
Crossref
Hiroaki Mitsuhashi, Sachiko Homma, Mary Lou Beermann, Satoshi Ishimaru, Hayato Takeda, Bryant K. Yu, Kevin Liu, Swetha Duraiswamy, Frederick M. Boyce & Jeffrey Boone Miller. (2019) Efficient system for upstream mRNA trans-splicing to generate covalent, head-to-tail, protein multimers. Scientific Reports 9:1.
Crossref
David Romeo-Guitart & Caty Casas. (2019) Network-centric medicine for peripheral nerve injury: Treating the whole to boost endogenous mechanisms of neuroprotection and regeneration. Neural Regeneration Research 14:7, pages 1122.
Crossref
S. Marcato, J. R. Kleinbub, G. Querin, E. Pick, I. Martinelli, C. Bertolin, S. Cipolletta, E. Pegoraro, G. Sorarù & A. Palmieri. (2018) Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. Scientific Reports 8:1.
Crossref
Sarah Jane Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G Laing & Gianina Ravenscroft. (2018) Genetics of neuromuscular fetal akinesia in the genomics era. Journal of Medical Genetics 55:8, pages 505-514.
Crossref
Mary García-Acero, Tatiana Pineda, Mariana Guerra-Torres, Reggie García-Robles, Paola Ayala-Ramírez, Tatiana Buitrago, Alisson Poveda & Fernando Suárez-Obando. (2018) Análisis del espectro mutacional de la distrofia muscular de Duchenne en un grupo de pacientes colombianos. Neurología Argentina 10:3, pages 137-146.
Crossref
Samya Chakravorty & Madhuri Hegde. (2018) Inferring the effect of genomic variation in the new era of genomics. Human Mutation 39:6, pages 756-773.
Crossref
Jana Haberlová. (2018) New therapies in neuromuscular disorders in childhood. Neurologie pro praxi 19:2, pages 108-113.
Crossref
Satish Sasikumar, Ashima Bhan & T. K. Rajendra. 2018. Stem Cells for Cancer and Genetic Disease Treatment. Stem Cells for Cancer and Genetic Disease Treatment 149 186 .
Ana Ferreiro. (2017) Early-onset myopathies: Entering a new age. Seminars in Cell & Developmental Biology 64, pages 158-159.
Crossref
Z. Fattahi, Z. Kalhor, M. Fadaee, R. Vazehan, E. Parsimehr, A. Abolhassani, M. Beheshtian, G. Zamani, S. Nafissi, Y. Nilipour, M.R. Akbari, K. Kahrizi, A. Kariminejad & H. Najmabadi. (2016) Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clinical Genetics 91:3, pages 386-402.
Crossref
M. Li, K.J. Hromowyk, S.L. Amacher & P.D. Currie. 2017. The Zebrafish - Disease Models and Chemical Screens. The Zebrafish - Disease Models and Chemical Screens 347 380 .
Dorota Monies, Hindi N. Alhindi, Mohamed A. Almuhaizea, Mohamed Abouelhoda, Anas M. Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M. Wakil, Nada A. Altassan, Brian F. Meyer & Saeed Bohlega. (2016) A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. Human Genomics 10:1.
Crossref
Noha Rabieh, Silviya M. Ojovan, Nava Shmoel, Hadas Erez, Eilon Maydan & Micha E. Spira. (2016) On-chip, multisite extracellular and intracellular recordings from primary cultured skeletal myotubes. Scientific Reports 6:1.
Crossref
Yuri Kitamura, Eri Kondo, Mari Urano, Ryoko Aoki & Kayoko Saito. (2016) Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. Journal of Human Genetics 61:11, pages 931-942.
Crossref
Jaya Punetha, Akanchha Kesari, Prech Uapinyoying, Mamta Giri, Nigel F. Clarke, Leigh B. Waddell, Kathryn N. North, Roula Ghaoui, Gina L. O’Grady, Emily C. Oates, Sarah A. Sandaradura, Carsten G. Bönnemann, Sandra Donkervoort, Paul H. Plotz, Edward C. Smith, Carolina Tesi-Rocha, Tulio E. Bertorini, Mark A. Tarnopolsky, Bernd Reitter, Irena Hausmanowa-Petrusewicz & Eric P. Hoffman. (2016) Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. Journal of Neuromuscular Diseases 3:2, pages 209-225.
Crossref
Dennis Lal, Bernd A. Neubauer, Mohammad R. Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn & Michael Nothnagel. (2016) Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLOS ONE 11:1, pages e0146040.
Crossref
Xia TianWen-Chen LiangYanming FengJing WangVictor Wei ZhangChih-Hung ChouHsien-Da HuangChing Wan LamYa-Yun HsuThy-Sheng LinWan-Tzu ChenLee-Jun WongYuh-Jyh Jong. (2015) Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurology Genetics 1:2.
Crossref
Peter JärverEman M. ZaghloulAndrey A. ArzumanovAmer F. SalehGraham McCloreySuzan M. HammondMattias HällbrinkÜlo LangelC.I. Edvard SmithMatthew J.A. WoodMichael J. GaitSamir EL Andaloussi. (2015) Peptide Nanoparticle Delivery of Charge-Neutral Splice-Switching Morpholino Oligonucleotides. Nucleic Acid Therapeutics 25:2, pages 65-77.
Crossref
K.J.M. van Nimwegen, J.H. Schieving, M.A.A.P. Willemsen, J.A. Veltman, S. van der Burg, G.J. van der Wilt & J.P.C. Grutters. (2015) The diagnostic pathway in complex paediatric neurology: A cost analysis. European Journal of Paediatric Neurology 19:2, pages 233-239.
Crossref
Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora J. H. Bean, Christin Collins, Alice K. Tanner & Madhuri R. Hegde. (2015) A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Annals of Neurology 77:2, pages 206-214.
Crossref
Dirk Hadaschik, Yasmin Singh & Saskia Biskup. 2015. Movement Disorder Genetics. Movement Disorder Genetics 451 462 .
Joline Dalton, Jill S. Goldman & Jacinda B. Sampson. 2015. Genetic Counseling for Adult Neurogenetic Disease. Genetic Counseling for Adult Neurogenetic Disease 239 249 .
Macarena Cabrera-Serrano, Reimar C. Junckerstorff, Vanessa Atkinson, Padma Sivadorai, Richard J. Allcock, Phillipa Lamont & Nigel G. Laing. (2015) Novel CHKB mutation expands the megaconial muscular dystrophy phenotype . Muscle & Nerve 51:1, pages 140-143.
Crossref
Marco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, Annalaura Torella, Francesca Magri, Filippo Maria Santorelli, Giacomo Pietro Comi, Claudio Bruno & Vincenzo Nigro. (2014) MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. Acta Neuropathologica Communications 2:1.
Crossref
Daiane C. F. Golbert, Eliane Santana-van-Vliet, Alex S. Mundstein, Vicente Calfo, Wilson Savino & Ana Tereza R. de Vasconcelos. (2014) Laminin-database v.2.0: an update on laminins in health and neuromuscular disorders. Nucleic Acids Research 42:D1, pages D426-D429.
Crossref
Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi & Massimo Zeviani. (2013) Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. Orphanet Journal of Rare Diseases 8:1.
Crossref
Arunkanth Ankala, Jordan N. Kohn, Rashna Dastur, Pradnya Gaitonde, Satish V. Khadilkar & Madhuri R. Hegde. (2013) Ancestral founder mutations in calpain‐3 in the Indian Agarwal community: Historical, clinical, and molecular perspective. Muscle & Nerve 47:6, pages 931-937.
Crossref
Kay Ohlendieck. (2013) Proteomic identification of biomarkers of skeletal muscle disorders. Biomarkers in Medicine 7:1, pages 169-186.
Crossref
Nasim Vasli & Jocelyn Laporte. (2012) Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders. Acta Neuropathologica 125:2, pages 173-185.
Crossref
Jenny A. Lounsbury, Anne Karlsson, Daniel C. Miranian, Stephen M. Cronk, Daniel A. Nelson, Jingyi Li, Doris M. Haverstick, Paul Kinnon, David J. Saul & James P. Landers. (2013) From sample to PCR product in under 45 minutes: a polymeric integrated microdevice for clinical and forensic DNA analysis. Lab on a Chip 13:7, pages 1384.
Crossref
Goknur Haliloglu & Haluk Topaloglu. 2013. Pediatric Neurology Part III. Pediatric Neurology Part III 1311 1319 .

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.