| P50 | author | Nanna Witting | Q51162639 |
| | Hilary Vallance | Q55692914 |
| | Nigel G Laing | Q56838398 |
| | Christian Krarup | Q57614606 |
| | Luigi D'Argenzio | Q58328107 |
| | Roope Mannikko | Q59554478 |
| | Karen Joan Suetterlin | Q60594741 |
| | Michael T Gabbett | Q79346623 |
| | Xin Cynthia Ye | Q85314324 |
| | John Vissing | Q90104169 |
| | Erik-Jan Kamsteeg | Q114442314 |
| | Michael Hanna | Q20876911 |
| | Michael G Thor | Q42738331 |
| P2093 | author name string | Jennifer E Morgan | |
| | Louise Hartley | |
| | Francesco Muntoni | |
| | Caroline A Sewry | |
| | Suzanne Lewis | |
| | Rahul Phadke | |
| | Emily C Oates | |
| | Matthew Pitt | |
| | Emma Matthews | |
| | Glenda Hendson | |
| | Lucy Feng | |
| | Ulla Werlauff | |
| | Magnhild Rasmussen | |
| | Gianina Ravenscroft | |
| | Mark R Davis | |
| | Anna Sarkozy | |
| | Clara van Karnebeek | |
| | Mena Abdelsayed | |
| | Nicoline Løkken | |
| | Maria Sframeli | |
| | Hanne Halvorsen | |
| | Irina T Zaharieva | |
| | Martin Ballegaard | |
| | Lin-Hua Zhang | |
| | Eveline Blom | |
| | Peter Ruben | |
| | Andreas Slørdahl | |
| P2860 | cites work | Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21. | Q51614266 |
| | Functional differences between two classes of sodium channels in developing rat skeletal muscle. | Q51806180 |
| | Tetrodotoxin-resistant Action Potentials in Newborn Rat Muscle | Q52729585 |
| | Studies on Tetrodotoxin Resistant Action Potentials in Denervated Skeletal Muscle | Q52736584 |
| | Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 |
| | A mutation in the human ryanodine receptor gene associated with central core disease | Q55670932 |
| | Structural parts involved in activation and inactivation of the sodium channel | Q59072056 |
| | Congenital myopathies | Q60173420 |
| | Congenital myopathies: an update | Q26824526 |
| | Specific interactions between the syntrophin PDZ domain and voltage-gated sodium channels | Q27748788 |
| | Channelopathies of skeletal muscle excitability | Q28082428 |
| | Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus | Q28087567 |
| | The dystrophin-associated protein complex | Q28206670 |
| | Human skeletal muscle sodium channelopathies | Q28274672 |
| | Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis | Q30600757 |
| | Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy | Q33590751 |
| | Myasthenic syndrome caused by mutation of the SCN4A sodium channel | Q35163768 |
| | Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. | Q35878466 |
| | Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias | Q36948037 |
| | Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype | Q37179038 |
| | NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery | Q37647775 |
| | Fetal akinesia: review of the genetics of the neuromuscular causes | Q37943805 |
| | Muscle channelopathies: recent advances in genetics, pathophysiology and therapy. | Q38246030 |
| | Primary structure and functional expression of a mammalian skeletal muscle sodium channel | Q42189395 |
| | Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. | Q44075701 |
| | A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia | Q44420417 |
| | Calmodulin binds to the C terminus of sodium channels Nav1.4 and Nav1.6 and differentially modulates their functional properties. | Q47633048 |
| | Pathophysiology of sodium channelopathies. Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction. | Q48080911 |
| P433 | issue | Pt 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | congenital disorder | Q727096 |
| P304 | page(s) | 674-691 | |
| P577 | publication date | 2015-12-22 | |
| P1433 | published in | Brain | Q897386 |
| P1476 | title | Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy | |
| P478 | volume | 139 | |