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Items: 21

1.

Emotionally-intense situations can result in rhabdomyolysis in McArdle disease.

Brady S, Godfrey R, Scalco RS, Quinlivan RM.

BMJ Case Rep. 2014 Oct 7;2014. pii: bcr2013203272. doi: 10.1136/bcr-2013-203272.

2.

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH.

Eur J Hum Genet. 2015 May;23(5):610-5. doi: 10.1038/ejhg.2014.162. Epub 2014 Aug 13. Review.

3.

Heart rate and perceived muscle pain responses to a functional walking test in McArdle disease.

Buckley JP, Quinlivan RM, Sim J, Eston RG, Short DS.

J Sports Sci. 2014;32(16):1561-9. doi: 10.1080/02640414.2014.906045. Epub 2014 Apr 14.

PMID:
24731154
4.

Cochrane 20 years on: the Cochrane Neuromuscular Disease Group.

Lunn MP, Quinlivan RM.

Neuromuscul Disord. 2013 Nov;23(11):871-3. doi: 10.1016/j.nmd.2013.08.001. Epub 2013 Aug 7. No abstract available.

PMID:
24011699
5.

Muscle MRI in Bethlem myopathy.

Morrow JM, Pitceathly RD, Quinlivan RM, Yousry TA.

BMJ Case Rep. 2013 Apr 16;2013. pii: bcr2013008596. doi: 10.1136/bcr-2013-008596. No abstract available.

6.

An unusual case of scapula winging.

Walter J, Kiely N, Cool P, Tyrrell P, Quinlivan RM.

Neuromuscul Disord. 2013 Mar;23(3):277-8. doi: 10.1016/j.nmd.2012.12.008. Epub 2013 Feb 4. No abstract available.

PMID:
23391618
7.

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H.

J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1204-9. doi: 10.1136/jnnp-2012-303055. Epub 2012 Jul 31.

PMID:
22851605
8.

Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon.

Birch KE, Quinlivan RM, Morris GE.

Neuromuscul Disord. 2013 Jan;23(1):43-51. doi: 10.1016/j.nmd.2012.06.348. Epub 2012 Jul 20.

PMID:
22818872
9.

SEPN1-related myopathies: clinical course in a large cohort of patients.

Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F.

Neurology. 2011 Jun 14;76(24):2073-8. doi: 10.1212/WNL.0b013e31821f467c.

PMID:
21670436
10.

Muscle histology vs MRI in Duchenne muscular dystrophy.

Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG, Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, Hughes-Carre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F.

Neurology. 2011 Jan 25;76(4):346-53. doi: 10.1212/WNL.0b013e318208811f.

11.

Pharmacological and nutritional treatment trials in McArdle disease.

Quinlivan RM, Beynon RJ.

Acta Myol. 2007 Jul;26(1):58-60. Review.

12.

Invited commentary. Sarcoglycanopathies: a clinico-pathological study.

Quinlivan RM.

Neurol India. 2007 Apr-Jun;55(2):100-1. No abstract available.

13.

Central core disease: clinical, pathological, and genetic features.

Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA.

Arch Dis Child. 2003 Dec;88(12):1051-5.

14.

Positron emission tomography in paediatric cardiology.

Quinlivan RM, Robinson RO, Maisey MN.

Arch Dis Child. 1998 Dec;79(6):520-2. Review. No abstract available.

15.

Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.

Quinlivan RM, Robb SA, Sewry C, Dubowitz V, Piccolo F, Kaplan JC.

Dev Med Child Neurol. 1997 Nov;39(11):770-4.

16.

Cardiac function, metabolism and perfusion in Duchenne and Becker muscular dystrophy.

Quinlivan RM, Lewis P, Marsden P, Dundas R, Robb SA, Baker E, Maisey M.

Neuromuscul Disord. 1996 Aug;6(4):237-46.

PMID:
8887952
17.
18.

Dystrophin expression in the hair cells of the cochlea.

Dodson HC, Piper TA, Clarke JD, Quinlivan RM, Dickson G.

J Neurocytol. 1995 Aug;24(8):625-32.

PMID:
7595670
19.

Food intolerance and baby food.

Coward FB, Quinlivan RM.

Br J Gen Pract. 1994 Nov;44(388):532-3. No abstract available.

20.

Infantile axonal neuropathy in two siblings.

Quinlivan RM, Robb SA, Hall SM, Honavar M, Hughes RA, Dubowitz V.

Neuromuscul Disord. 1994 May;4(3):227-32.

PMID:
7919970
21.

Cardiac transplantation in Becker muscular dystrophy.

Quinlivan RM, Dubowitz V.

Neuromuscul Disord. 1992;2(3):165-7. Review.

PMID:
1483041

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