Research & Literature

Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.

Gatheridge MA, Kwon JM, Mendell JM, et al.

JAMA neurology 2016; (73(1)):111-6 doi:10.1001/jamaneurol.2015.3537.

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

Papa R, Madia F, Bartolomeo D, et al.

Pediatric neurology 2016; (55()):58-63.

Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.

Brady L, Giri M, Provias J, et al.

Neuromuscular disorders : NMD 2016; (26(2)):160-4.

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.

Abath Neto O, Silva MR, Martins Cde A, et al.

Pediatric neurology 2016; (58()):107-12.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, et al.

American journal of human genetics 2016; (98(6)):1067-1076 doi:10.1016/j.ajhg.2016.03.024.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Savarese M, Di Fruscio G, Torella A, et al.

Neurology 2016; (87(1)):71-6 doi:10.1212/WNL.0000000000002800.

Coexistence of central nucleus, cores, and rods: Diagnostic relevance.

Dhinakaran S, Kumar RS, Thakkar R, Narayanappa G

Annals of Indian Academy of Neurology 2016; (19(2)):201-4 doi:10.4103/0972-2327.176861.

Congenital myopathies: not only a paediatric topic.

Jungbluth H, Voermans NC

Current opinion in neurology 2016; (29(5)):642-50 doi:10.1097/WCO.0000000000000372.

Clinical protocol for the management of malignant hyperthermia.

Kollmann-Camaiora A, Alsina E, Domínguez A, et al.

Revista espanola de anestesiologia y reanimacion 2017; (64(1)):32-40 doi:10.1016/j.redar.2016.06.004.

Myopathology in congenital myopathies.

Sewry CA, Wallgren-Pettersson C

Neuropathology and applied neurobiology 2017; (43(1)):5-23 doi:10.1111/nan.12369.

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.

Mercier S, Lornage X, Malfatti E, et al.

Neurology 2017; (88(4)):414-416 doi:10.1212/WNL.0000000000003535.

JSA guideline for the management of malignant hyperthermia crisis 2016.

Journal of anesthesia 2017; (31(2)):307-317 doi:10.1007/s00540-016-2305-z.

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.

Schoser B, Fong E, Geberhiwot T, et al.

Orphanet journal of rare diseases 2017; (12(1)):52 doi:10.1186/s13023-017-0598-0.

Five-Year Follow-Up and Outcomes of Noninvasive Ventilation in Subjects With Neuromuscular Diseases.

Suh MR, Choi WA, Kim DH, et al.

Respiratory care 2018; (63(3)):274-281 doi:10.4187/respcare.05475.

Duplex signaling by CaM and Stac3 enhances CaV1.1 function and provides insights into congenital myopathy.

Niu J, Yang W, Yue DT, et al.

The Journal of general physiology 2018; (150(8)):1145-1161 doi:10.1085/jgp.201812005.

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

Strande NT, Brnich SE, Roman TS, Berg JS

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(9)):918-926 doi:10.1038/s41436-018-0100-y.

Malignant hyperthermia.

Hopkins PM, Gupta PK, Bilmen JG

Handbook of clinical neurology 2018; (157()):645-661 doi:10.1016/B978-0-444-64074-1.00038-0.

A child diagnosed with rigid spine syndrome complicated by ventilatory disorders: a nursing case report.

Lu H, Liu Z, Li B

The Journal of international medical research 2019; (47(2)):1030-1034 doi:10.1177/0300060518815358.

Long-Term Ventilation in Neuromuscular Patients: Review of Concerns, Beliefs, and Ethical Dilemmas.

Crimi C, Pierucci P, Carlucci A, et al.

Respiration; international review of thoracic diseases 2019; (97(3)):185-196 doi:10.1159/000495941.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, et al.

Human mutation 2019; (40(7)):962-974 doi:10.1002/humu.23745.

Update on the Genetics of Congenital Myopathies.

Pelin K, Wallgren-Pettersson C

Seminars in pediatric neurology 2019; (29()):12-22 doi:10.1016/j.spen.2019.01.005.

Therapeutic Aspects in Congenital Myopathies.

Jungbluth H, Muntoni F

Seminars in pediatric neurology 2019; (29()):71-82 doi:10.1016/j.spen.2019.01.004.

Respiratory Care of Patients With Neuromuscular Disease.

Benditt JO

Respiratory care 2019; (64(6)):679-688 doi:10.4187/respcare.06827.

Neonatal hypotonia and neuromuscular conditions.

Mercuri E, Pera MC, Brogna C

Handbook of clinical neurology 2019; (162()):435-448 doi:10.1016/B978-0-444-64029-1.00021-7.

Malignant hyperthermia in a 4-year-old girl during anesthesia induction with sevoflurane and succinylcholine for congenital ptosis surgery.

Ferhi F, Dardour L, Tej A, et al.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2019; (33(2)):183-187 doi:10.1016/j.sjopt.2018.10.002.

Combined noninvasive ventilation and mechanical insufflator-exsufflator for acute respiratory failure in patients with neuromuscular disease: effectiveness and outcome predictors.

Chen TH, Liang WC, Chen IC, et al.

Therapeutic advances in respiratory disease 2019; (13()):1753466619875928 doi:10.1177/1753466619875928.

Congenital myopathies: an update.

Claeys KG

Developmental medicine and child neurology 2020; (62(3)):297-302 doi:10.1111/dmcn.14365.

Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?

Adaikina A, Hofman PL, O'Grady GL, Gusso S

Pediatric neurology 2020; (104()):13-18 doi:10.1016/j.pediatrneurol.2019.10.008.

Optimizing Mechanical Insufflation-Exsufflation - Much More than Cough Peak Flow.

Branson RD, Benditt JO

Respiratory care 2020; (65(2)):265-268 doi:10.4187/respcare.07682.

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.

Cho A, Lima de Carvalho JR, Tanaka AJ, et al.

Orphanet journal of rare diseases 2020; (15(1)):32 doi:10.1186/s13023-020-1312-1.

Numerical Analysis of Airway Mucus Clearance Effectiveness Using Assisted Coughing Techniques.

Ren S, Li W, Wang L, et al.

Scientific reports 2020; (10(1)):2030 doi:10.1038/s41598-020-58922-7.

Neuromuscular Junction Disorders and Floppy Infant Syndrome: A Comprehensive Review.

Kaler J, Hussain A, Patel S, Majhi S

Cureus 2020; (12(2)):e6922 doi:10.7759/cureus.6922.

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.

Al Amrani F, Gorodetsky C, Hazrati LN, et al.

Neurology. Genetics 2020; (6(3)):e423 doi:10.1212/NXG.0000000000000423.

Effect of multidisciplinary team care on the risk of recurrence in breast cancer patients: A national matched cohort study.

Tsai CH, Hsieh HF, Lai TW, et al.

Breast (Edinburgh, Scotland) 2020; (53()):68-76 doi:10.1016/j.breast.2020.07.001.

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population.

Timonen A, Lloyd-Puryear M, Hougaard DM, et al.

International journal of neonatal screening 2019; (5(3)):27 doi:10.3390/ijns5030027.

Consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients from the European Malignant Hyperthermia Group.

Rüffert H, Bastian B, Bendixen D, et al.

British journal of anaesthesia 2021; (126(1)):120-130 doi:10.1016/j.bja.2020.09.029.

Effects of Remimazolam and Propofol on Ca2+ Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation.

Watanabe T, Miyoshi H, Noda Y, et al.

BioMed research international 2021; (2021()):8845129 doi:10.1155/2021/8845129.

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.

de Winter JM, Gineste C, Minardi E, et al.

Human molecular genetics 2021; (30(14)):1305-1320 doi:10.1093/hmg/ddab112.

The Effect of Multidisciplinary Team Discussion Intervention on the Prognosis of Advanced Colorectal Cancer.

Zhang H, Yu J, Wei Z, et al.

Journal of Cancer 2021; (12(11)):3307-3314 doi:10.7150/jca.56171.

Diagnostic and clinical utility of genetic testing in children with kidney failure.

Chen J, Lin F, Zhai Y, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(11)):3653-3662 doi:10.1007/s00467-021-05141-5.

Structure and function of STAC proteins: Calcium channel modulators and critical components of muscle excitation-contraction coupling.

Rufenach B, Van Petegem F

The Journal of biological chemistry 2021; (297(1)):100874 doi:10.1016/j.jbc.2021.100874.

Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant.

Akuamoah-Boateng G, Stetson RC, Kaemingk BD, et al.

AJP reports 2021; (11(2)):e91-e94 doi:10.1055/s-0041-1728782.

Genetic therapy for congenital myopathies.

Maani N, Karolczak S, Dowling JJ

Current opinion in neurology 2021; (34(5)):727-737 doi:10.1097/WCO.0000000000000978.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Biancalana V, Rendu J, Chaussenot A, et al.

Acta neuropathologica communications 2021; (9(1)):155 doi:10.1186/s40478-021-01254-y.

Recent advances in nemaline myopathy.

Laitila J, Wallgren-Pettersson C

Neuromuscular disorders : NMD 2021; (31(10)):955-967 doi:10.1016/j.nmd.2021.07.012.

Creatine kinase test diagnostic accuracy in neonatal screening for Duchenne Muscular Dystrophy: A systematic review.

de Freitas Nakata KC, da Silva Pereira PP, Salgado Riveros B

Clinical biochemistry 2021; (98()):1-9 doi:10.1016/j.clinbiochem.2021.09.010.

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.

Foo CTY, To YH, Irwanto A, et al.

Scientific reports 2022; (12(1)):5429 doi:10.1038/s41598-022-09310-w.

Congenital myopathies in adults: A diagnosis not to overlook.

Pinto MJ, Passos BA, Grangeia A, et al.

Acta neurologica Scandinavica 2022; (146(2)):152-159 doi:10.1111/ane.13632.

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.

Magri F, Antognozzi S, Ripolone M, et al.

Skeletal muscle 2022; (12(1)):23 doi:10.1186/s13395-022-00306-8.

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.

Hayes LH, Perdomini M, Aykanat A, et al.

Neurology. Genetics 2022; (8(6)):e200027 doi:10.1212/NXG.0000000000200027.

The role of the clinical nurse specialist in head and neck cancer care.

Greedy J

British dental journal 2022; (233(9)):806-811 doi:10.1038/s41415-022-5143-4.

Ambulatory transcutaneous carbon dioxide monitoring for children with neuromuscular disease.

Shi J, Chiang J, Ambreen M, et al.

Sleep medicine 2023; (101()):221-227 doi:10.1016/j.sleep.2022.10.028.

Therapeutic approaches in different congenital myopathies.

Gineste C, Laporte J

Current opinion in pharmacology 2023; (68()):102328 doi:10.1016/j.coph.2022.102328.

Multidisciplinary ocular and periocular cancers meetings: implementation in a tertiary referral center and analysis over a 12-months period.

Savino G, Piccinni F, Pagliara MM, et al.

BMC ophthalmology 2022; (22(1)):497 doi:10.1186/s12886-022-02694-3.

Rapid Dantrolene Administration with Body Temperature Monitoring Is Associated with Decreased Mortality in Japanese Malignant Hyperthermia Events.

Toyota Y, Kondo T, Shorin D, et al.

BioMed research international 2023; (2023()):8340209 doi:10.1155/2023/8340209.

One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.

Deng Q, Ding Z, Fu Q, Lin M

Gene 2023; (876()):147493 doi:10.1016/j.gene.2023.147493.

Getting It Right in Restrictive Lung Disease.

Carlucci A, Fusar Poli B

Journal of clinical medicine 2023; (12(10)) doi:10.3390/jcm12103353.

Congenital myopathies.

Younger DS

Handbook of clinical neurology 2023; (195()):533-561 doi:10.1016/B978-0-323-98818-6.00027-3.

Can Scoliosis Help the Early Diagnosis of Congenital Myasthenic Syndrome?

Kaya O, Kirik S

Cureus 2023; (15(9)):e45875 doi:10.7759/cureus.45875.

Diagnostic Accuracy of Creatine Kinase Isoenzyme-MM Test in Newborn Screening for Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.

Tang L, Pan M, Wu F

Pediatric neurology 2024; (153()):84-91 doi:10.1016/j.pediatrneurol.2024.01.010.

Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.

Galli RA, Borsboom TC, Gineste C, et al.

The Journal of general physiology 2024; (156(4)) doi:10.1085/jgp.202313471.

Clinical and surgical effectiveness of the multi-disciplinary standardized management model in the treatment of retroperitoneal liposarcoma: Evidence-based clinical practice experience from Fudan Zhongshan.

Fan P, Tao P, Wang J, et al.

Surgery 2024; (175(5)):1368-1376 doi:10.1016/j.surg.2024.01.012.

Review of advanced practice nurse role in infection throughout the hematopoietic stem cell transplant journey.

Gilsenan M, Van Der Linde S, Hill G, Lambros B

Transplant infectious disease : an official journal of the Transplantation Society 2024; (26(2)):e14268 doi:10.1111/tid.14268.

Remimazolam-based total intravenous anesthesia in a patient with a confirmed diagnosis of malignant hyperthermia: a case report.

Kondo H, Mukaida K, Sasai K, et al.

JA clinical reports 2024; (10(1)):26 doi:10.1186/s40981-024-00710-7.

Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy.

Chen Y, Zhang S, Lu X, et al.

BMC pulmonary medicine 2024; (24(1)):194 doi:10.1186/s12890-024-03016-7.

Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.

Lanvin PL, Li D, Conrad S, et al.

Neurology. Clinical practice 2024; (14(3)):e200228 doi:10.1212/CPJ.0000000000200228.

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.

Lee CL, Chuang CK, Chiu HC, et al.

Frontiers in genetics 2024; (15()):1365729 doi:10.3389/fgene.2024.1365729.

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

Harikrishna GV, Padmanabha H, Polavarapu K, et al.

Journal of neuromuscular diseases 2024; (11(5)):935-957 doi:10.3233/JND-230021.

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

de Feraudy Y, Vandroux M, Romero NB, et al.

Genome medicine 2024; (16(1)):87 doi:10.1186/s13073-024-01353-0.

Characteristics and Outcomes of Colorectal Cancer Patients Cared for by the Multidisciplinary Team in the Reggio Emilia Province, Italy.

Mangone L, Marinelli F, Bisceglia I, et al.

Cancers 2024; (16(13)) doi:10.3390/cancers16132390.

Hypercapnia is not excluded by normoxia in neuromuscular disease patients: implications for oximetry.

Gray E, Menadue C, Piper A, et al.

ERJ open research 2024; (10(4)) doi:10.1183/23120541.00927-2023.

The Influencing Factors of Psychosocial Adaptation of Cancer Patients: A Systematic Review and Meta-Analysis.

Zhu H, Yang L, Yin H, et al.

Health services insights 2024; (17()):11786329241278814 doi:10.1177/11786329241278814.

Risk Stratification and Management of Acute Respiratory Failure in Patients With Neuromuscular Disease.

McKenzie ED, Kromm JA, Mobach T, et al.

Critical care medicine 2024; (52(11)):1781-1789 doi:10.1097/CCM.0000000000006417.

Respiratory issues and current management in neuromuscular diseases: a narrative review.

Akpa B, Pusalavidyasagar S, Iber C

Journal of thoracic disease 2024; (16(9)):6292-6307 doi:10.21037/jtd-23-1931.

[The influence of hydrokinesitherapy on motor and cardiorespiratory functions in hereditary myopathy of childhood].

Suslov VM, Lieberman LN, Ponomarenko GN, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2024; (124(11. Vyp. 2)):88-95 doi:10.17116/jnevro202412411288.

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Perrin A, Garcia-Uzquiano R, Stojkovic T, et al.

International journal of molecular sciences 2024; (25(23)) doi:10.3390/ijms252312994.

5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.

Ruiz A, Noreen F, Meier H, et al.

Human molecular genetics 2025; (34(9)):790-805 doi:10.1093/hmg/ddaf021.

Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.

Lauerova B, Dolanska A, Lassuthova P, et al.

Neuromuscular disorders : NMD 2025; (51()):105366 doi:10.1016/j.nmd.2025.105366.

Multidisciplinary teams in clinical lipidology and cardiometabolic care: A National Lipid Association Expert Clinical Review.

Cheeley MK, Kirkpatrick CF, Brown EE, et al.

Journal of clinical lipidology 2025; (19(4)):737-747 doi:10.1016/j.jacl.2025.05.002.

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Ross JE, Flowers M, McNulty S, et al.

Journal of neuromuscular diseases 2025; (12(6)):778-792 doi:10.1177/22143602251339369.

Outcomes of an oral motor and swallowing rehabilitation program in patients with congenital myopathies.

Dornellas ALC, Sassi FC, Ritto AP, et al.

CoDAS 2025; (37(4)):e20240294 doi:10.1590/2317-1782/e20240294en.

Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsy.

Vilaboy T, Wong K, Tristani-Firouzi M, et al.

Epilepsia open 2025; (10(5)):1726-1732 doi:10.1002/epi4.70132.

Physiological Effects of Mechanical Insufflation-Exsufflation in Patients With Neuromuscular Disease: A Scoping Review.

Edel L, Andersen T, Shkurka E

Respiratory care 2026; (71(1)):86-96 doi:10.1177/19433654251372040.

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.

Gerlach Melhedegaard E, Rostedt F, Gineste C, et al.

JCI insight 2025; (10(24)).

A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Variants of Uncertain Significance in Type 2 Long QT Syndrome.

Neves R, Crotti L, Bains S, et al.

JACC. Clinical electrophysiology 2026; (12(2)):350-359 doi:10.1016/j.jacep.2025.10.005.

[The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies].

de Feraudy Y, Laporte J

Medecine sciences : M/S 2025; (41 Hors série n° 2()):64-70 doi:10.1051/medsci/2025180.

Transition from ICU to home care with long-term invasive ventilation using a single-limb BiPAP circuit.

Stoian M, Demenciuc N, Laszlo SS, et al.

Journal of critical care medicine (Universitatea de Medicina si Farmacie din Targu-Mures) 2026; (12(1)):117-124 doi:10.2478/jccm-2026-0004.

Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders.

Wong KSW, Sen A, Michell-Sodhi J, et al.

Neurology. Clinical practice 2026; (16(2)):e200590 doi:10.1212/CPJ.0000000000200590.