PubMed

Implementation of "The Consensus Statement for the Standard of Care in Spinal Muscular Atrophy" when applied to infants with severe type 1 SMA in the UK.

Roper H, Quinlivan R.

Arch Dis Child. 2009 Oct 8. [Epub ahead of print]PMID: 19819869 [PubMed - as supplied by publisher]Related articles

High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.

Duno M, Quinlivan R, Vissing J, Schwartz M.

Ann Hum Genet. 2009 May;73(Pt 3):292-7.PMID: 19472443 [PubMed - indexed for MEDLINE]Related articles

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.

Ann Neurol. 2008 Nov;64(5):573-82.PMID: 19067344 [PubMed - indexed for MEDLINE]Related articles

Calcium antagonists for Duchenne muscular dystrophy.

Phillips MF, Quinlivan R.

Cochrane Database Syst Rev. 2008 Oct 8;(4):CD004571. Review.PMID: 18843663 [PubMed - indexed for MEDLINE]Related articles

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.

Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kröger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F.

Brain Pathol. 2009 Oct;19(4):596-611. Epub 2008 Aug 7.PMID: 18691338 [PubMed - indexed for MEDLINE]Related articles

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

Quinlivan R, Beynon RJ, Martinuzzi A.

Cochrane Database Syst Rev. 2008 Apr 16;(2):CD003458. Review.PMID: 18425888 [PubMed - indexed for MEDLINE]Related articles

The role of lactate in the exercise-induced human growth hormone response: evidence from McArdle disease.

Godfrey RJ, Whyte GP, Buckley J, Quinlivan R.

Br J Sports Med. 2009 Jul;43(7):521-5. Epub 2008 Jan 9.PMID: 18184755 [PubMed - in process]Related articles

Pharmacological and nutritional treatment trials in McArdle disease.

Quinlivan RM, Beynon RJ.

Acta Myol. 2007 Jul;26(1):58-60. Review.PMID: 17915572 [PubMed - indexed for MEDLINE]Related articles

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.

Ann Neurol. 2007 Oct;62(4):390-405.PMID: 17886299 [PubMed - indexed for MEDLINE]Related articles

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.

Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.PMID: 17878207 [PubMed - indexed for MEDLINE]Related articlesFree article

Invited commentary. Sarcoglycanopathies: a clinico-pathological study.

Quinlivan RM.

Neurol India. 2007 Apr-Jun;55(2):100-1. No abstract available. PMID: 17558106 [PubMed - indexed for MEDLINE]Related articlesFree article

144th ENMC International Workshop: Outcome Measures in McArdle Disease, 29 September-1 November 2006, Naarden, The Netherlands.

Quinlivan R, Vissing J.

Neuromuscul Disord. 2007 Jun;17(6):494-8. Epub 2007 May 8. No abstract available. PMID: 17490880 [PubMed - indexed for MEDLINE]Related articles

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F.

Brain. 2007 Aug;130(Pt 8):2024-36. Epub 2007 May 4.PMID: 17483490 [PubMed - indexed for MEDLINE]Related articlesFree article

The use of stock orthoses to assist gait in neuromuscular disorders: a pilot study.

Farmer SE, Pearce G, Whittall J, Quinlivan RC, Patrick JH.

Prosthet Orthot Int. 2006 Aug;30(2):145-54.PMID: 16990225 [PubMed - indexed for MEDLINE]Related articles

Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention.

Quinlivan R, Roper H, Davie M, Shaw NJ, McDonagh J, Bushby K.

Neuromuscul Disord. 2005 Jan;15(1):72-9. Epub 2004 Dec 10. No abstract available. PMID: 15639124 [PubMed - indexed for MEDLINE]Related articles

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.

Jungbluth H, Beggs A, Bönnemann C, Bushby K, Ceuterick-de Groote C, Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F, Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A.

Neuromuscul Disord. 2004 Nov;14(11):754-66. No abstract available. PMID: 15482962 [PubMed - indexed for MEDLINE]Related articles

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease.

Ducreux S, Zorzato F, Müller C, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S.

J Biol Chem. 2004 Oct 15;279(42):43838-46. Epub 2004 Aug 8.PMID: 15299003 [PubMed - indexed for MEDLINE]Related articlesFree article

Pharmacological and nutritional treatment for McArdle's disease (Glycogen Storage Disease type V).

Quinlivan R, Beynon RJ.

Cochrane Database Syst Rev. 2004;(3):CD003458. Review. Update in: Cochrane Database Syst Rev. 2008;(2):CD003458. PMID: 15266486 [PubMed - indexed for MEDLINE]Related articles

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K.

Arch Neurol. 2004 May;61(5):690-4.PMID: 15148145 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 14670767 [PubMed - indexed for MEDLINE]Related articlesFree article

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller CR, Laing NG.

Neuromuscul Disord. 2003 Feb;13(2):151-7.PMID: 12565913 [PubMed - indexed for MEDLINE]Related articles

The spectrum of pathology in central core disease.

Sewry CA, Müller C, Davis M, Dwyer JS, Dove J, Evans G, Schröder R, Fürst D, Helliwell T, Laing N, Quinlivan RC.

Neuromuscul Disord. 2002 Dec;12(10):930-8.PMID: 12467748 [PubMed - indexed for MEDLINE]Related articles

Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy.

Phillips MF, Quinlivan RC, Edwards RH, Calverley PM.

Am J Respir Crit Care Med. 2001 Dec 15;164(12):2191-4.PMID: 11751186 [PubMed - indexed for MEDLINE]Related articlesFree article

Social skills training modules in an intensive community support program.

Chandler D, Quinlivan R.

Adm Policy Ment Health. 2000 Mar;27(4):211-20.PMID: 10911670 [PubMed - indexed for MEDLINE]Related articles

Treating high-cost users of behavioral health services in a health maintenance organization.

QUINLIVAN RT.

Psychiatr Serv. 2000 Feb;51(2):159-61. No abstract available. PMID: 10654993 [PubMed - indexed for MEDLINE]Related articlesFree article

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. PMID: 10211000 [PubMed - indexed for MEDLINE]Related articlesFree article

Effect of vitamin B6 supplementation in McArdle's disease: a strategic case study.

Phoenix J, Hopkins P, Bartram C, Beynon RJ, Quinlivan RC, Edwards RH.

Neuromuscul Disord. 1998 May;8(3-4):210-2.PMID: 9631404 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 9393893 [PubMed - indexed for MEDLINE]Related articles

Cost savings and rehabilitation: compatible goals in for-profit care for persons with serious mental illness?

Quinlivan R.

Psychiatr Serv. 1997 Oct;48(10):1269-71. No abstract available. PMID: 9323745 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Designing a comprehensive care program for high-cost clients in a managed care environment.

Quinlivan R, McWhirter DP.

Psychiatr Serv. 1996 Aug;47(8):813-5. No abstract available. PMID: 8837152 [PubMed - indexed for MEDLINE]Related articles

A novel trial design to study the effect of intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy.

Thompson N, Choudhary P, Hughes RA, Quinlivan RM.

J Neurol. 1996 Mar;243(3):280-5.PMID: 8936360 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Becker muscular dystrophy presenting with complete heart block in the sixth decade.

Quinlivan R, Ball J, Dunckley M, Thomas DJ, Flinter F, Morgan-Hughes J.

J Neurol. 1995 Jun;242(6):398-400.PMID: 7561969 [PubMed - indexed for MEDLINE]Related articles

Service utilization and costs of care for severely mentally ill clients in an intensive case management program.

Quinlivan R, Hough R, Crowell A, Beach C, Hofstetter R, Kenworthy K.

Psychiatr Serv. 1995 Apr;46(4):365-71.PMID: 7788458 [PubMed - indexed for MEDLINE]Related articles

Food intolerance and baby food.

Coward FB, Quinlivan RM.

Br J Gen Pract. 1994 Nov;44(388):532-3. No abstract available. PMID: 7748653 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

Congenital sensory neuropathy in association with ichthyosis and anterior chamber cleavage syndrome.

Quinlivan R, Robb S, Hughes RA, Hall SM, Calver D.

Neuromuscul Disord. 1993 May;3(3):217-21.PMID: 8400862 [PubMed - indexed for MEDLINE]Related articles

Cardiac transplantation in Becker muscular dystrophy.

Quinlivan RM, Dubowitz V.

Neuromuscul Disord. 1992;2(3):165-7. Review.PMID: 1483041 [PubMed - indexed for MEDLINE]Related articles