For: | Ho G, Cardamone M, Farrar M. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World J Clin Pediatr 2015; 4(4): 66-80 [PMID: 26566479 DOI: 10.5409/wjcp.v4.i4.66] |
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URL: | https://www.wjgnet.com/1007-9327/full/v4/i4/66.htm |
Number | Citing Articles |
1 |
Laurène M. André, Remco T.P. van Cruchten, Marieke Willemse, Karel Bezstarosti, Jeroen A.A. Demmers, Ellen L. van Agtmaal, Derick G. Wansink, Bé Wieringa. Recovery in the Myogenic Program of Congenital Myotonic Dystrophy Myoblasts after Excision of the Expanded (CTG)n Repeat. International Journal of Molecular Sciences 2019; 20(22): 5685 doi: 10.3390/ijms20225685
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2 |
Federica S. Ricci, Martina Vacchetti, Chiara Brusa, Rossella D'Alessandro, Paola La Rosa, Gianluca Martone, Chiara Davico, Benedetto Vitiello, Tiziana E. Mongini. Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1. European Journal of Paediatric Neurology 2022; 39: 59 doi: 10.1016/j.ejpn.2022.05.008
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3 |
Barbora Červenková. Congenital Myotonic Dystrophy in the Neonatal Period -. Listy klinické logopedie 2023; 7(1): 19 doi: 10.36833/lkl.2023.008
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4 |
Nathaniël B. Rasing, Willianne van de Geest-Buit, On Ying A. Chan, Karlien Mul, Anke Lanser, Corrie E. Erasmus, Jan T. Groothuis, Judith Holler, Koen J. A. O. Ingels, Bart Post, Ietske Siemann, Nicol C. Voermans. Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases. Disability and Rehabilitation 2024; 46(17): 3772 doi: 10.1080/09638288.2023.2259310
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5 |
Kosuke Shigematsu, Yukiko Mikami, Mamiko Shinsaka, Masanobu Kinoshita, Yasushi Takai. Congenital Phenotypes and DMPK CTG Repeat Number in Mothers/Children with Myotonic Dystrophy Type 1. OBM Genetics 2023; 7(01): 1 doi: 10.21926/obm.genet.2301179
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6 |
Antonella Lo Mauro, Andrea Aliverti. Physiology of respiratory disturbances in muscular dystrophies. Breathe 2016; 12(4): 318 doi: 10.1183/20734735.012716
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7 |
Bryan P. Fitzgerald, Kelly M. Conn, Joanne Smith, Andrew Walker, Amy L. Parkhill, James E. Hilbert, Elizabeth A. Luebbe, Richard T. Moxley III. Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy. Journal of Neurology 2016; 263(12): 2528 doi: 10.1007/s00415-016-8300-3
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8 |
Lleimi Alarcón-Pérez, Cristina Pastor-Laín, Lourdes Barragán-González, Claudia Sarrais-Polo, María T. López-Gil, Ignacio Mantilla-Martínez. Management of anesthesia in a pediatric patient with myotonic dystrophy type 1. Case report. Colombian Journal of Anesthesiology 2018; 46(1): 72 doi: 10.1097/CJ9.0000000000000013
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9 |
Sonal Malhotra, Aristotle Asis, Daniel Glaze. Sleep Medicine. 2023; : 225 doi: 10.1007/978-3-031-30010-3_14
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10 |
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11 |
Gerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, Sharona Azriel, José Eulalio Bárcena, Pablo Cabezudo García, Ana Camacho Salas, Carlos Casanova Rodríguez, Ana María Cobo, Patricia Díaz Guardiola, Roberto Fernández-Torrón, María Pía Gallano Petit, Pablo García Pavía, María Gómez Gallego, Antonio José Gutiérrez Martínez, Ivonne Jericó, Solange Kapetanovic García, Adolfo López de Munaín Arregui, Loreto Martorell, Germán Morís de la Tassa, Raúl Moreno Zabaleta, José Luis Muñoz-Blanco, Juana Olivar Roldán, Samuel Ignacio Pascual Pascual, Rafael Peinado Peinado, Helena Pérez, Juan José Poza Aldea, María Rabasa, Alba Ramos, Alfredo Rosado Bartolomé, Miguel Ángel Rubio Pérez, Jon Andoni Urtizberea, Gustavo Zapata-Wainberg, Eduardo Gutiérrez-Rivas. Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert. Medicina Clínica 2019; 153(2): 82.e1 doi: 10.1016/j.medcli.2018.10.028
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12 |
E. K. Erokhina, E. A. Melnik, D. V. Vlodavets. Clinical characteristics of different forms of myotonic dystrophy type 1. Russian Journal of Child Neurology 2023; 18(1): 22 doi: 10.17650/2073-8803-2023-18-1-22-37
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13 |
Samantha LoRusso, Benjamin Weiner, W. David Arnold. Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. Neurotherapeutics 2018; 15(4): 872 doi: 10.1007/s13311-018-00679-z
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14 |
Alex S. García-Gutiérrez, Adriana E. Pérez-Padilla, Jose E. Leon-Rojas, Edison Ramos-Gonzales, Iván Ramírez, María B. Trujillo. Complicated Traumatic Nerve Injury Treated with Tendon Transfers in a Patient with Myotonic Dystrophy. JBJS Case Connector 2021; 11(2) doi: 10.2106/JBJS.CC.21.00100
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15 |
Stella Lanni, Christopher E. Pearson. Molecular genetics of congenital myotonic dystrophy. Neurobiology of Disease 2019; 132: 104533 doi: 10.1016/j.nbd.2019.104533
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16 |
Molly White. Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic Dystrophy. Therapeutic Innovation & Regulatory Science 2020; 54(5): 1010 doi: 10.1007/s43441-020-00117-3
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17 |
I. Lambert, A. Sevy. Hypersomnolence secondaire à une dystrophie myotonique de type 1 sans myotonie clinique. Médecine du Sommeil 2018; 15(2): 88 doi: 10.1016/j.msom.2018.03.001
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18 |
Examining the Causal Relationship Between Genes, Epigenetics, and Human Health. Advances in Bioinformatics and Biomedical Engineering 2019; : 425 doi: 10.4018/978-1-5225-8066-9.ch017
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19 |
Larry D. Purnell, Eric A. Fenkl. Handbook for Culturally Competent Care. 2019; : 155 doi: 10.1007/978-3-030-21946-8_14
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20 |
Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi. Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort. Frontiers in Pediatrics 2022; 10 doi: 10.3389/fped.2022.910660
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21 |
James D. Thomas, Łukasz J. Sznajder, Olgert Bardhi, Faaiq N. Aslam, Zacharias P. Anastasiadis, Marina M. Scotti, Ichizo Nishino, Masayuki Nakamori, Eric T. Wang, Maurice S. Swanson. Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy. Genes & Development 2017; 31(11): 1122 doi: 10.1101/gad.300590.117
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22 |
Heather A. Hayes, Deanna Dibella, Rebecca Crockett, Melissa Dixon, Russel J. Butterfield, Nicholas E. Johnson. Stepping Activity in Children With Congenital Myotonic Dystrophy. Pediatric Physical Therapy 2018; 30(4): 335 doi: 10.1097/PEP.0000000000000537
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23 |
Rosemary Rogers, Kelly Moyer, Kenneth J. Moise. Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencing. Prenatal Diagnosis 2022; 42(2): 233 doi: 10.1002/pd.6105
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24 |
Ambika G. Chidambaram, Sanjay Jhawar, Craig M. McDonald, Kiran Nandalike. Sleep Disordered Breathing in Children with Neuromuscular Disease. Children 2023; 10(10): 1675 doi: 10.3390/children10101675
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25 |
Patricia Furlong, Ashish Dugar, Molly White. Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trials. Research Involvement and Engagement 2024; 10(1) doi: 10.1186/s40900-023-00535-1
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26 |
Sameera Vattipalli, Girija Prasad Rath, Umeshkumar Athiraman. Fundamentals of Pediatric Neuroanesthesia. 2021; : 579 doi: 10.1007/978-981-16-3376-8_35
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27 |
Catherine Morgan, Michael E. Msall. Developmental and Behavioral Pediatrics. 2018; doi: 10.1542/9781610021357-14
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28 |
Omay Lee, Mary Porteous. Genetic testing and reproductive choice in neurological disorders. Practical Neurology 2017; 17(4): 275 doi: 10.1136/practneurol-2017-001619
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29 |
C. Sarret, B. Khalili, B. Pontier, F. Laffargue. Quand suspecter une maladie musculaire chez l’enfant ?. Perfectionnement en Pédiatrie 2018; 1(3): 205 doi: 10.1016/j.perped.2018.07.006
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30 |
Anwar Baban, Valentina Lodato, Giovanni Parlapiano, Corrado di Mambro, Rachele Adorisio, Enrico Silvio Bertini, Carlo Dionisi-Vici, Fabrizio Drago, Diego Martinelli. Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children. Biomolecules 2021; 11(11): 1578 doi: 10.3390/biom11111578
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31 |
Valeria Dipasquale, Rossella Morello, Claudio Romano. Gastrointestinal and nutritional care in pediatric neuromuscular disorders. World Journal of Clinical Pediatrics 2023; 12(4): 197-204 doi: 10.5409/wjcp.v12.i4.197
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Heather R. Gilbreath. Common Neuromuscular Disorders in Pediatrics. Physician Assistant Clinics 2016; 1(4): 583 doi: 10.1016/j.cpha.2016.05.002
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Robin Miralles, Deepa Panjwani. Emerging Topics and Controversies in Neonatology. 2020; : 71 doi: 10.1007/978-3-030-28829-7_5
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Thiéry De Serres-Bérard, Marion Pierre, Mohamed Chahine, Jack Puymirat. Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy. Neurobiology of Disease 2021; 160: 105532 doi: 10.1016/j.nbd.2021.105532
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Howard B. Panitch. Kendig's Disorders of the Respiratory Tract in Children. 2019; : 382 doi: 10.1016/B978-0-323-44887-1.00021-3
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38 |
Stephan Wenninger, Federica Montagnese, Benedikt Schoser. Core Clinical Phenotypes in Myotonic Dystrophies. Frontiers in Neurology 2018; 9 doi: 10.3389/fneur.2018.00303
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39 |
Kiera N. Berggren, Man Hung, Melissa M. Dixon, Jerry Bounsanga, Becky Crockett, Mary D. Foye, Yushan Gu, Craig Campbell, Russell J. Butterfield, Nicholas E. Johnson. Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy. Muscle & Nerve 2018; 58(3): 413 doi: 10.1002/mus.26176
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40 |
Irina V. Grishchenko, Yana V. Purvinsh, Dmitry V. Yudkin. Mechanisms of Genome Protection and Repair. Advances in Experimental Medicine and Biology 2020; 1241: 101 doi: 10.1007/978-3-030-41283-8_7
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41 |
Sithara Ramdas, Sandeep Jayawant. Advances in neuromuscular disorders – an update. Paediatrics and Child Health 2017; 27(6): 271 doi: 10.1016/j.paed.2017.02.009
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42 |
M. De Antonio, C. Dogan, D. Hamroun, M. Mati, S. Zerrouki, B. Eymard, S. Katsahian, G. Bassez. Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. Revue Neurologique 2016; 172(10): 572 doi: 10.1016/j.neurol.2016.08.003
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43 |
Ahamodur Choudhury, Abdul Rahyead, Jochen Kammermeier, Mohamed Mutalib. The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction. Pediatrics 2018; 141(Supplement_5): S404 doi: 10.1542/peds.2017-0007
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44 |
Slavica Ostojić, Gordana Kovačević, Giovanni Meola, Jovan Pešović, Dušanka Savić-Pavićević, Miloš Brkušanin, Ružica Kravljanac, Marina Perić, Jelena Martić, Katarina Pejić, Snežana Ristić, Stojan Perić. Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center. Neuromuscular Disorders 2024; 40: 16 doi: 10.1016/j.nmd.2024.05.002
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45 |
Inês Cascais, Cristina Garrido, Lurdes Morais, Rosa Amorim, Rosa Lima, Helena Ferreira Mansilha, Teresa Correia, António Oliveira, Manuela Santos. Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital. European Journal of Paediatric Neurology 2024; 48: 85 doi: 10.1016/j.ejpn.2023.12.001
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46 |
Irene Valenzuela, Marcos Linés, Elena Martínez-Sáez, Ana Cueto-González, Félix Castillo, Eduardo Tizzano. Clinical study of a patient with congenital myotonic dystrophy reveals chylothorax as neonatal presentation of the disease. Case Reports in Perinatal Medicine 2018; 7(1) doi: 10.1515/crpm-2017-0025
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47 |
Hirohisa Fujikawa, Daigo Hayashi, Minoru Saito. Myotonic dystrophy type 1 presenting with grip myotonia and functional improvement after rehabilitation. BMJ Case Reports 2021; 14(4): e241552 doi: 10.1136/bcr-2021-241552
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48 |
Fang Kuan Chiou, Hina Rizvi, Ros Quinlivan, Girish L. Gupte. Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure. JPGN Reports 2021; 2(4): e121 doi: 10.1097/PG9.0000000000000121
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49 |
Melissa Borrelli, Gaetano Terrone, Roberto Evangelisti, Flora Fedele, Adele Corcione, Francesca Santamaria. Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians. Pediatrics & Neonatology 2023; 64(2): 109 doi: 10.1016/j.pedneo.2022.09.016
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50 |
Yuu Uchio, Masaya Zushi, Kaho Nakamura, Naoko Shima, Tetsuo Ikai. A Case of Congenital Myotonic Dystrophy with Rehabilitation Intervention in the Neonatal Intensive Care Unit. The Japanese Journal of Rehabilitation Medicine 2024; 61(2): 125 doi: 10.2490/jjrmc.23003
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51 |
G. Gutiérrez Gutiérrez, J. Díaz-Manera, M. Almendrote, S. Azriel, J. Eulalio Bárcena, P. Cabezudo García, A. Camacho Salas, C. Casanova Rodríguez, A.M. Cobo, P. Díaz Guardiola, R. Fernández-Torrón, M.P. Gallano Petit, P. García Pavía, M. Gómez Gallego, A.J. Gutiérrez Martínez, I. Jericó, S. Kapetanovic García, A. López de Munaín Arregui, L. Martorell, G. Morís de la Tassa, R. Moreno Zabaleta, J.L. Muñoz-Blanco, J. Olivar Roldán, S.I. Pascual Pascual, R. Peinado Peinado, H. Pérez, J.J. Poza Aldea, M. Rabasa, A. Ramos, A. Rosado Bartolomé, M.Á. Rubio Pérez, J.A. Urtizberea, G. Zapata-Wainberg, E. Gutiérrez-Rivas. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. Neurología (English Edition) 2020; 35(3): 185 doi: 10.1016/j.nrleng.2019.01.008
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52 |
Yanyun Wu, Qianqian Wei, Junyu Lin, Huifang Shang, Ruwei Ou. Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review. Frontiers in Cellular Neuroscience 2024; 18 doi: 10.3389/fncel.2024.1369332
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53 |
Jodi S. Dashe, Eva K. Pressman, Judith U. Hibbard. SMFM Consult Series #46: Evaluation and management of polyhydramnios. American Journal of Obstetrics and Gynecology 2018; 219(4): B2 doi: 10.1016/j.ajog.2018.07.016
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54 |
Jean-Paul Praud, Gregory J. Redding. Kendig's Disorders of the Respiratory Tract in Children. 2019; : 1044 doi: 10.1016/B978-0-323-44887-1.00072-9
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55 |
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56 |
Federica Trucco, Andrea Lizio, Elisabetta Roma, Alessandra di Bari, Francesca Salmin, Emilio Albamonte, Jacopo Casiraghi, Susanna Pozzi, Stefano Becchiati, Laura Antonaci, Anna Salvalaggio, Michela Catteruccia, Michele Tosi, Gemma Marinella, Federica R. Danti, Fabio Bruschi, Marco Veneruso, Stefano Parravicini, Chiara Fiorillo, Angela Berardinelli, Antonella Pini, Isabella Moroni, Guja Astrea, Roberta Battini, Adele D’Amico, Federica Ricci, Marika Pane, Eugenio M. Mercuri, Nicholas E. Johnson, Valeria A. Sansone. Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy. Journal of Clinical Medicine 2024; 13(18): 5459 doi: 10.3390/jcm13185459
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57 |
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58 |
Marinee Chuah, Yoke Chin Chai, Sumitava Dastidar, Thierry VandenDriessche. Muscle Gene Therapy. 2019; : 525 doi: 10.1007/978-3-030-03095-7_30
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59 |
Yuhei Hasuike, Hideki Mochizuki, Masayuki Nakamori. Cellular Senescence and Aging in Myotonic Dystrophy. International Journal of Molecular Sciences 2022; 23(4): 2339 doi: 10.3390/ijms23042339
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60 |
James D. Thomas, Ruan Oliveira, Łukasz J. Sznajder, Maurice S. Swanson. Comprehensive Physiology. 2018; : 509 doi: 10.1002/cphy.c170002
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61 |
Giuseppa Maresca, Simona Portaro, Antonino Naro, Ileana Scarcella, Placido Bramanti, David Militi, Maria Accorinti, Rosaria De Luca, Rocco Salvatore Calabrò. Look at the cognitive deficits in patients with myotonic dystrophy type 1: an exploratory research on the effects of virtual reality. International Journal of Rehabilitation Research 2020; 43(1): 90 doi: 10.1097/MRR.0000000000000384
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62 |
Meryl T Thomas, Swapnil Shah, Himanshu Popat, Bernadette Hanna, Pranav Jani. Hypoglycaemia and myotonic dystrophy. Journal of Paediatrics and Child Health 2022; 58(4): 713 doi: 10.1111/jpc.15633
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63 |
Milena Rizzo, Pascale Beffy, Renata Del Carratore, Alessandra Falleni, Virginia Pretini, Romina D’Aurizio, Annalisa Botta, Monica Evangelista, Andrea Stoccoro, Fabio Coppedè, Denis Furling, Marcella Simili. Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts. Cell Death & Disease 2018; 9(11) doi: 10.1038/s41419-018-1080-1
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64 |
Maya Braun, Shachar Shoshani, Joana Teixeira, Anna Mellul Shtern, Maya Miller, Zvi Granot, Sylvia E.J. Fischer, Susana M.D. A. Garcia, Yuval Tabach. Asymmetric inheritance of RNA toxicity in C. elegans expressing CTG repeats. iScience 2022; 25(5): 104246 doi: 10.1016/j.isci.2022.104246
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65 |
Siham Ait Benichou, Dominic Jauvin, Thiéry De Serres-Bérard, Marion Pierre, Karen K. Ling, C. Frank Bennett, Frank Rigo, Genevieve Gourdon, Mohamed Chahine, Jack Puymirat. Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1. Gene Therapy 2022; 29(12): 698 doi: 10.1038/s41434-022-00316-7
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66 |
Michio Kobayashi. Complications of Myotonic Dystrophy. The Japanese Journal of Rehabilitation Medicine 2022; 59(2): 175 doi: 10.2490/jjrmc.59.175
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67 |
Deysi Licourt Otero, Melissa Toledo Licourt, Belkys Candelaria Gómez, Ilena Aurora Díaz Hernández. Congenital Myotonic Dystrophy type 1: prenatal manifestations regarding a case. SCT Proceedings in Interdisciplinary Insights and Innovations 2024; 1: 102 doi: 10.56294/piii2023102
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68 |
Evan M. Pucillo, Deanna L. Dibella, Man Hung, Jerry Bounsanga, Becky Crockett, Melissa Dixon, Russell J. Butterfield, Craig Campbell, Nicholas E. Johnson. Physical function and mobility in children with congenital myotonic dystrophy. Muscle & Nerve 2017; 56(2): 224 doi: 10.1002/mus.25482
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69 |
Qi Yin, Hongye Wang, Na Li, Yifu Ding, Zhenfei Xie, Lifang Jin, Yan Li, Qiong Wang, Xinyi Liu, Liuqing Xu, Qing Li, Yongjian Ma, Yanbo Cheng, Kai Wang, Cuiqing Zhong, Qian Yu, Wei Tang, Wanjin Chen, Wenjun Yang, Fan Zhang, Chen Ding, Lan Bao, Bin Zhou, Ping Hu, Jinsong Li. Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1. Cell Research 2020; 30(2): 133 doi: 10.1038/s41422-019-0264-2
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70 |
G. Gutiérrez Gutiérrez, J. Díaz-Manera, M. Almendrote, S. Azriel, J. Eulalio Bárcena, P. Cabezudo García, A. Camacho Salas, C. Casanova Rodríguez, A.M. Cobo, P. Díaz Guardiola, R. Fernández-Torrón, M.P. Gallano Petit, P. García Pavía, M. Gómez Gallego, A.J. Gutiérrez Martínez, I. Jericó, S. Kapetanovic García, A. López de Munaín Arregui, L. Martorell, G. Morís de la Tassa, R. Moreno Zabaleta, J.L. Muñoz-Blanco, J. Olivar Roldán, S.I. Pascual Pascual, R. Peinado Peinado, H. Pérez, J.J. Poza Aldea, M. Rabasa, A. Ramos, A. Rosado Bartolomé, M.Á. Rubio Pérez, J.A. Urtizberea, G. Zapata-Wainberg, E. Gutiérrez-Rivas. Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert. Neurología 2020; 35(3): 185 doi: 10.1016/j.nrl.2019.01.001
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71 |
Claire Johnson, Kathleen E. Langbehn, Jeffrey D. Long, David Moser, Stephen Cross, Laurie Gutmann, Peggy C. Nopoulos, Ellen van der Plas. Encoding of facial expressions in individuals with adult-onset myotonic dystrophy type 1. Journal of Clinical and Experimental Neuropsychology 2020; 42(9): 932 doi: 10.1080/13803395.2020.1826410
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72 |
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73 |
Yanan Zhang, Bailey Wallace, Bo Cai, Nicholas Johnson, Emma Ciafaloni, Yedatore Swamy Venkatesh, Christina Westfield, Suzanne McDermott. Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course. Orphanet Journal of Rare Diseases 2024; 19(1) doi: 10.1186/s13023-024-03359-8
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74 |
Gerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, Sharona Azriel, José Eulalio Bárcena, Pablo Cabezudo García, Ana Camacho Salas, Carlos Casanova Rodríguez, Ana María Cobo, Patricia Díaz Guardiola, Roberto Fernández-Torrón, María Pía Gallano Petit, Pablo García Pavía, María Gómez Gallego, Antonio José Gutiérrez Martínez, Ivonne Jericó, Solange Kapetanovic García, Adolfo López de Munaín Arregui, Loreto Martorell, Germán Morís de la Tassa, Raúl Moreno Zabaleta, José Luis Muñoz-Blanco, Juana Olivar Roldán, Samuel Ignacio Pascual Pascual, Rafael Peinado Peinado, Helena Pérez, Juan José Poza Aldea, María Rabasa, Alba Ramos, Alfredo Rosado Bartolomé, Miguel Ángel Rubio Pérez, Jon Andoni Urtizberea, Gustavo Zapata-Wainberg, Eduardo Gutiérrez-Rivas. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. Medicina Clínica (English Edition) 2019; 153(2): 82.e1 doi: 10.1016/j.medcle.2018.10.021
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75 |
Gianina Ravenscroft, Mark R. Davis, Phillipa Lamont, Alistair Forrest, Nigel G. Laing. New era in genetics of early-onset muscle disease: Breakthroughs and challenges. Seminars in Cell & Developmental Biology 2017; 64: 160 doi: 10.1016/j.semcdb.2016.08.002
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76 |
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77 |
John E Pascoe, Alexander Zygmunt, Zarmina Ehsan, Neepa Gurbani. Sleep in pediatric neuromuscular disorders. Seminars in Pediatric Neurology 2023; 48: 101092 doi: 10.1016/j.spen.2023.101092
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78 |
Mathew Stokes, Natasha Varughese, Susan Iannaccone, Diana Castro. Clinical and genetic characteristics of childhood‐onset myotonic dystrophy. Muscle & Nerve 2019; 60(6): 732 doi: 10.1002/mus.26716
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79 |
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf. A couple of the first cousins born with hypotonia and maternal polyhydramnios. Clinical Case Reports 2024; 12(2) doi: 10.1002/ccr3.8503
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80 |
Oscar J. Wambuguh. Research Anthology on Pediatric and Adolescent Medicine. 2022; : 135 doi: 10.4018/978-1-6684-5360-5.ch009
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81 |
Tiyasha De, Pooja Sharma, Bharathram Upilli, A. Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Faruq. Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics 2024; 25(4): 393 doi: 10.1007/s10048-024-00770-y
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