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Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.
Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V. Quinlivan R, et al. Among authors: birchall d. Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002. Epub 2013 May 18. Neuromuscul Disord. 2013. PMID: 23692895
The phenotype of limb-girdle muscular dystrophy type 2I.
Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K. Poppe M, et al. Among authors: birchall d. Neurology. 2003 Apr 22;60(8):1246-51. doi: 10.1212/01.wnl.0000058902.88181.3d. Neurology. 2003. PMID: 12707425
Lower limb radiology of distal myopathy due to the S60F myotilin mutation.
McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter MC, Schramm N, Lochmüller H, Chinnery PF. McNeill A, et al. Among authors: birchall d. Eur Neurol. 2009;62(3):161-6. doi: 10.1159/000227266. Epub 2009 Jul 3. Eur Neurol. 2009. PMID: 19590214 Free PMC article.
Serial MRI in a case of familial hemiplegic migraine.
Butteriss DJ, Ramesh V, Birchall D. Butteriss DJ, et al. Among authors: birchall d. Neuroradiology. 2003 May;45(5):300-3. doi: 10.1007/s00234-003-0979-z. Epub 2003 Mar 27. Neuroradiology. 2003. PMID: 12669159
Genetics in reverse.
Chinnery PF, Cartlidge NE, Tennant S, Birchall D, Stenhouse SA. Chinnery PF, et al. Among authors: birchall d. Lancet. 2004 Jan 24;363(9405):290. doi: 10.1016/s0140-6736(03)15387-1. Lancet. 2004. PMID: 14751702 No abstract available.
91 results