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A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S. Habbout K, et al. Among authors: rivier f. Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11. Neurology. 2016. PMID: 26659129 Free PMC article.
Benign paroxysmal tonic upward gaze.
Echenne B, Rivier F. Echenne B, et al. Among authors: rivier f. Pediatr Neurol. 1992 Mar-Apr;8(2):154-5. doi: 10.1016/0887-8994(92)90041-v. Pediatr Neurol. 1992. PMID: 1580962
Congenital muscular dystrophy and cerebellar atrophy.
Echenne B, Rivier F, Tardieu M, Brive M, Robert A, Pages AM, Pons F, Mornet D. Echenne B, et al. Among authors: rivier f. Neurology. 1998 May;50(5):1477-80. doi: 10.1212/wnl.50.5.1477. Neurology. 1998. PMID: 9596013
[Benign familial infantile convulsions].
Echenne B, Rivier F, Humbertclaude V, Roubertie A, Cheminal R, Malafosse A. Echenne B, et al. Among authors: rivier f. Arch Pediatr. 1999 Jan;6(1):54-8. doi: 10.1016/S0929-693X(99)80075-X. Arch Pediatr. 1999. PMID: 9974098 French.
McArdle's disease in childhood: report of a new case.
Roubertie A, Patte K, Rivier F, Pages AM, Maire I, Echenne B. Roubertie A, et al. Among authors: rivier f. Eur J Paediatr Neurol. 1998;2(5):269-73. doi: 10.1016/s1090-3798(98)80041-x. Eur J Paediatr Neurol. 1998. PMID: 10726830
194 results