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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]
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 RepeatInternational Journal of Molecular Sciences 2019; 20(22): 5685 doi: 10.3390/ijms20225685
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 1European Journal of Paediatric Neurology 2022; 39: 59 doi: 10.1016/j.ejpn.2022.05.008
3
Barbora Červenková. Congenital Myotonic Dystrophy in the Neonatal Period -Listy klinické logopedie 2023; 7(1): 19 doi: 10.36833/lkl.2023.008
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 diseasesDisability and Rehabilitation 2024; 46(17): 3772 doi: 10.1080/09638288.2023.2259310
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 1OBM Genetics 2023; 7(01): 1 doi: 10.21926/obm.genet.2301179
6
Antonella Lo Mauro, Andrea Aliverti. Physiology of respiratory disturbances in muscular dystrophiesBreathe 2016; 12(4): 318 doi: 10.1183/20734735.012716
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 dystrophyJournal of Neurology 2016; 263(12): 2528 doi: 10.1007/s00415-016-8300-3
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 reportColombian Journal of Anesthesiology 2018; 46(1): 72 doi: 10.1097/CJ9.0000000000000013
9
Sonal Malhotra, Aristotle Asis, Daniel Glaze. Sleep Medicine2023; : 225 doi: 10.1007/978-3-031-30010-3_14
10
Progressive Brain Disorders in Childhood2017; : 208 doi: 10.1017/9781107323704.055
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 SteinertMedicina Clínica 2019; 153(2): 82.e1 doi: 10.1016/j.medcli.2018.10.028
12
E. K. Erokhina, E. A. Melnik, D. V. Vlodavets. Clinical characteristics of different forms of myotonic dystrophy type 1Russian Journal of Child Neurology 2023; 18(1): 22 doi: 10.17650/2073-8803-2023-18-1-22-37
13
Samantha LoRusso, Benjamin Weiner, W. David Arnold. Myotonic Dystrophies: Targeting Therapies for Multisystem DiseaseNeurotherapeutics 2018; 15(4): 872 doi: 10.1007/s13311-018-00679-z
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 DystrophyJBJS Case Connector 2021; 11(2) doi: 10.2106/JBJS.CC.21.00100
15
Stella Lanni, Christopher E. Pearson. Molecular genetics of congenital myotonic dystrophyNeurobiology of Disease 2019; 132: 104533 doi: 10.1016/j.nbd.2019.104533
16
Molly White. Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic DystrophyTherapeutic Innovation & Regulatory Science 2020; 54(5): 1010 doi: 10.1007/s43441-020-00117-3
17
I. Lambert, A. Sevy. Hypersomnolence secondaire à une dystrophie myotonique de type 1 sans myotonie cliniqueMédecine du Sommeil 2018; 15(2): 88 doi: 10.1016/j.msom.2018.03.001
18
Examining the Causal Relationship Between Genes, Epigenetics, and Human HealthAdvances in Bioinformatics and Biomedical Engineering 2019; : 425 doi: 10.4018/978-1-5225-8066-9.ch017
19
Larry D. Purnell, Eric A. Fenkl. Handbook for Culturally Competent Care2019; : 155 doi: 10.1007/978-3-030-21946-8_14
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 CohortFrontiers in Pediatrics 2022; 10 doi: 10.3389/fped.2022.910660
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 dystrophyGenes & Development 2017; 31(11): 1122 doi: 10.1101/gad.300590.117
22
Heather A. Hayes, Deanna Dibella, Rebecca Crockett, Melissa Dixon, Russel J. Butterfield, Nicholas E. Johnson. Stepping Activity in Children With Congenital Myotonic DystrophyPediatric Physical Therapy 2018; 30(4): 335 doi: 10.1097/PEP.0000000000000537
23
Rosemary Rogers, Kelly Moyer, Kenneth J. Moise. Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencingPrenatal Diagnosis 2022; 42(2): 233 doi: 10.1002/pd.6105
24
Ambika G. Chidambaram, Sanjay Jhawar, Craig M. McDonald, Kiran Nandalike. Sleep Disordered Breathing in Children with Neuromuscular DiseaseChildren 2023; 10(10): 1675 doi: 10.3390/children10101675
25
Patricia Furlong, Ashish Dugar, Molly White. Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trialsResearch Involvement and Engagement 2024; 10(1) doi: 10.1186/s40900-023-00535-1
26
Sameera Vattipalli, Girija Prasad Rath, Umeshkumar Athiraman. Fundamentals of Pediatric Neuroanesthesia2021; : 579 doi: 10.1007/978-981-16-3376-8_35
27
Catherine Morgan, Michael E. Msall. Developmental and Behavioral Pediatrics2018;  doi: 10.1542/9781610021357-14
28
Omay Lee, Mary Porteous. Genetic testing and reproductive choice in neurological disordersPractical Neurology 2017; 17(4): 275 doi: 10.1136/practneurol-2017-001619
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
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 ChildrenBiomolecules 2021; 11(11): 1578 doi: 10.3390/biom11111578
31
Valeria Dipasquale, Rossella Morello, Claudio Romano. Gastrointestinal and nutritional care in pediatric neuromuscular disordersWorld Journal of Clinical Pediatrics 2023; 12(4): 197-204 doi: 10.5409/wjcp.v12.i4.197
32
Fernando Suárez-Obando, Adriana Ordóñez-Vásquez, Luisa Fernanda Suárez Ordóñez, Juan Carlos Prieto. Métodos diagnósticos moleculares en enfermedades neuromusculares y neurodegenerativas de origen genéticoPediatría 2024; 57(1): e497 doi: 10.14295/rp.v57i1.497
33
Heather R. Gilbreath. Common Neuromuscular Disorders in PediatricsPhysician Assistant Clinics 2016; 1(4): 583 doi: 10.1016/j.cpha.2016.05.002
34
Robin Miralles, Deepa Panjwani. Emerging Topics and Controversies in Neonatology2020; : 71 doi: 10.1007/978-3-030-28829-7_5
35
Thiéry De Serres-Bérard, Marion Pierre, Mohamed Chahine, Jack Puymirat. Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophyNeurobiology of Disease 2021; 160: 105532 doi: 10.1016/j.nbd.2021.105532
36
Howard B. Panitch. Kendig's Disorders of the Respiratory Tract in Children2019; : 382 doi: 10.1016/B978-0-323-44887-1.00021-3
37
Rebecca Folkerth. Perinatal Neuropathology2021; : 329 doi: 10.1017/9781316671863.056
38
Stephan Wenninger, Federica Montagnese, Benedikt Schoser. Core Clinical Phenotypes in Myotonic DystrophiesFrontiers in Neurology 2018; 9 doi: 10.3389/fneur.2018.00303
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 dystrophyMuscle & Nerve 2018; 58(3): 413 doi: 10.1002/mus.26176
40
Irina V. Grishchenko, Yana V. Purvinsh, Dmitry V. Yudkin. Mechanisms of Genome Protection and RepairAdvances in Experimental Medicine and Biology 2020; 1241: 101 doi: 10.1007/978-3-030-41283-8_7
41
Sithara Ramdas, Sandeep Jayawant. Advances in neuromuscular disorders – an updatePaediatrics and Child Health 2017; 27(6): 271 doi: 10.1016/j.paed.2017.02.009
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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 classificationRevue Neurologique 2016; 172(10): 572 doi: 10.1016/j.neurol.2016.08.003
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Ahamodur Choudhury, Abdul Rahyead, Jochen Kammermeier, Mohamed Mutalib. The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-ObstructionPediatrics 2018; 141(Supplement_5): S404 doi: 10.1542/peds.2017-0007
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 centerNeuromuscular Disorders 2024; 40: 16 doi: 10.1016/j.nmd.2024.05.002
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 hospitalEuropean Journal of Paediatric Neurology 2024; 48: 85 doi: 10.1016/j.ejpn.2023.12.001
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 diseaseCase Reports in Perinatal Medicine 2018; 7(1) doi: 10.1515/crpm-2017-0025
47
Hirohisa Fujikawa, Daigo Hayashi, Minoru Saito. Myotonic dystrophy type 1 presenting with grip myotonia and functional improvement after rehabilitationBMJ Case Reports 2021; 14(4): e241552 doi: 10.1136/bcr-2021-241552
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 FailureJPGN Reports 2021; 2(4): e121 doi: 10.1097/PG9.0000000000000121
49
Melissa Borrelli, Gaetano Terrone, Roberto Evangelisti, Flora Fedele, Adele Corcione, Francesca Santamaria. Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatriciansPediatrics & Neonatology 2023; 64(2): 109 doi: 10.1016/j.pedneo.2022.09.016
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 UnitThe Japanese Journal of Rehabilitation Medicine 2024; 61(2): 125 doi: 10.2490/jjrmc.23003
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 diseaseNeurología (English Edition) 2020; 35(3): 185 doi: 10.1016/j.nrleng.2019.01.008
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Yanyun Wu, Qianqian Wei, Junyu Lin, Huifang Shang, Ruwei Ou. Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive reviewFrontiers in Cellular Neuroscience 2024; 18 doi: 10.3389/fncel.2024.1369332
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Jodi S. Dashe, Eva K. Pressman, Judith U. Hibbard. SMFM Consult Series #46: Evaluation and management of polyhydramniosAmerican Journal of Obstetrics and Gynecology 2018; 219(4): B2 doi: 10.1016/j.ajog.2018.07.016
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Jean-Paul Praud, Gregory J. Redding. Kendig's Disorders of the Respiratory Tract in Children2019; : 1044 doi: 10.1016/B978-0-323-44887-1.00072-9
55
Adele D’Amico, Enrico Bertini. Neurology2019; : 223 doi: 10.1016/B978-0-323-54392-7.00013-3
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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 ItalyJournal of Clinical Medicine 2024; 13(18): 5459 doi: 10.3390/jcm13185459
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Y. Chaix. Enfants DYS2018; : 67 doi: 10.1016/B978-2-294-74877-6.00006-9
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Marinee Chuah, Yoke Chin Chai, Sumitava Dastidar, Thierry VandenDriessche. Muscle Gene Therapy2019; : 525 doi: 10.1007/978-3-030-03095-7_30
59
Yuhei Hasuike, Hideki Mochizuki, Masayuki Nakamori. Cellular Senescence and Aging in Myotonic DystrophyInternational Journal of Molecular Sciences 2022; 23(4): 2339 doi: 10.3390/ijms23042339
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James D. Thomas, Ruan Oliveira, Łukasz J. Sznajder, Maurice S. Swanson. Comprehensive Physiology2018; : 509 doi: 10.1002/cphy.c170002
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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 realityInternational Journal of Rehabilitation Research 2020; 43(1): 90 doi: 10.1097/MRR.0000000000000384
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Meryl T Thomas, Swapnil Shah, Himanshu Popat, Bernadette Hanna, Pranav Jani. Hypoglycaemia and myotonic dystrophyJournal of Paediatrics and Child Health 2022; 58(4): 713 doi: 10.1111/jpc.15633
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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 myoblastsCell Death & Disease 2018; 9(11) doi: 10.1038/s41419-018-1080-1
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 repeatsiScience 2022; 25(5): 104246 doi: 10.1016/j.isci.2022.104246
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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 1Gene Therapy 2022; 29(12): 698 doi: 10.1038/s41434-022-00316-7
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Michio Kobayashi. Complications of Myotonic DystrophyThe Japanese Journal of Rehabilitation Medicine 2022; 59(2): 175 doi: 10.2490/jjrmc.59.175
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Deysi Licourt Otero, Melissa Toledo Licourt, Belkys Candelaria Gómez, Ilena Aurora Díaz Hernández. Congenital Myotonic Dystrophy type 1: prenatal manifestations regarding a caseSCT Proceedings in Interdisciplinary Insights and Innovations 2024; 1: 102 doi: 10.56294/piii2023102
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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 dystrophyMuscle & Nerve 2017; 56(2): 224 doi: 10.1002/mus.25482
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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 1Cell Research 2020; 30(2): 133 doi: 10.1038/s41422-019-0264-2
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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 SteinertNeurología 2020; 35(3): 185 doi: 10.1016/j.nrl.2019.01.001
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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 1Journal of Clinical and Experimental Neuropsychology 2020; 42(9): 932 doi: 10.1080/13803395.2020.1826410
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Henry Knipe, Kathryn Kinser. Radiopaedia.org2019;  doi: 10.53347/rID-66131
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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 courseOrphanet Journal of Rare Diseases 2024; 19(1) doi: 10.1186/s13023-024-03359-8
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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 diseaseMedicina Clínica (English Edition) 2019; 153(2): 82.e1 doi: 10.1016/j.medcle.2018.10.021
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Gianina Ravenscroft, Mark R. Davis, Phillipa Lamont, Alistair Forrest, Nigel G. Laing. New era in genetics of early-onset muscle disease: Breakthroughs and challengesSeminars in Cell & Developmental Biology 2017; 64: 160 doi: 10.1016/j.semcdb.2016.08.002
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Tohru Matsuura. Myotonic Dystrophy2018; : 1 doi: 10.1007/978-981-13-0508-5_1
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John E Pascoe, Alexander Zygmunt, Zarmina Ehsan, Neepa Gurbani. Sleep in pediatric neuromuscular disordersSeminars in Pediatric Neurology 2023; 48: 101092 doi: 10.1016/j.spen.2023.101092
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Mathew Stokes, Natasha Varughese, Susan Iannaccone, Diana Castro. Clinical and genetic characteristics of childhood‐onset myotonic dystrophyMuscle & Nerve 2019; 60(6): 732 doi: 10.1002/mus.26716
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Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf. A couple of the first cousins born with hypotonia and maternal polyhydramniosClinical Case Reports 2024; 12(2) doi: 10.1002/ccr3.8503
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Oscar J. Wambuguh. Research Anthology on Pediatric and Adolescent Medicine2022; : 135 doi: 10.4018/978-1-6684-5360-5.ch009
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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 originNeurogenetics 2024; 25(4): 393 doi: 10.1007/s10048-024-00770-y