Browse by UCL people
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Number of items: 65.
Article
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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Ambrosini, A;
Quinlivan, R;
Sansone, VA;
Meijer, I;
Schrijvers, G;
Tibben, A;
Padberg, G;
... Zittersteijn, A; + view all
(2019)
“Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
Orphanet Journal of Rare Diseases
, 14
, Article 126. 10.1186/s13023-019-1103-8.
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Bell, JM;
Shields, MD;
Watters, J;
Hamilton, A;
Beringer, T;
Elliott, M;
Quinlivan, R;
... Blackwood, B; + view all
(2017)
Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy.
Cochrane Database of Systematic Reviews
(1)
, Article CD010899. 10.1002/14651858.CD010899.pub2.
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Bourke, JP;
Bueser, T;
Quinlivan, R;
(2018)
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X‐linked dilated cardiomyopathy.
Cochrane Database of Systematic Reviews
, 2018
(10)
, Article CD009068. 10.1002/14651858.CD009068.pub3.
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Brady, S;
Healy, EG;
Gang, Q;
Parton, M;
Quinlivan, R;
Jacob, S;
Curtis, E;
... Holton, JL; + view all
(2016)
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.
Journal of Neuropathology and Experimental Neurology
, 75
(12)
pp. 1171-1178.
10.1093/jnen/nlw096.
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Bugiardini, E;
Bottani, E;
Marchet, S;
Poole, OV;
Beninca, C;
Horga, A;
Woodward, C;
... Pitceathly, RDS; + view all
(2020)
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Neurology Genetics
, 6
(1)
, Article e381. 10.1212/nxg.0000000000000381.
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Bugiardini, E;
Khan, A;
Phadke, R;
Lynch, DS;
Cortese, A;
Feng, L;
Gang, Q;
... Hanna, MG; + view all
(2019)
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Neuromuscular Disorders
, 29
(10)
pp. 747-757.
10.1016/j.nmd.2019.08.003.
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Bugiardini, E;
Mitchell, AL;
Rosa, ID;
Horning-Do, H-T;
Pitmann, A;
Poole, OV;
Holton, JL;
... Spinazzola, A; + view all
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Human Molecular Genetics
10.1093/hmg/ddz093.
(In press).
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Bugiardini, E;
Pope, S;
Feichtinger, RG;
Poole, OV;
Pittman, AM;
Woodward, CE;
Heales, S;
... Pitceathly, RDS; + view all
(2019)
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Journal Of Clinical Medicine
, 8
(7)
, Article 991. 10.3390/jcm8070991.
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Bushby, K;
Finkel, R;
Wong, B;
Barohn, R;
Campbell, C;
Comi, GP;
Connolly, AM;
... McDonald, CM; + view all
(2014)
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle and Nerve
, 50
(4)
pp. 477-487.
10.1002/mus.24332.
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Cottenie, E;
Kochanski, A;
Jordanova, A;
Bansagi, B;
Zimon, M;
Horga, A;
Jaunmuktane, Z;
... Houlden, H; + view all
(2014)
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
, 95
(5)
590 - 601.
10.1016/j.ajhg.2014.10.002.
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Desikan, M;
Scalco, RS;
Manole, A;
Gardiner, A;
schapira, A;
Lachmann, R;
Houlden, H;
... Quinlivan, R; + view all
(2018)
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).
Neuromuscular Disorders
, 28
(4)
pp. 346-349.
10.1016/j.nmd.2018.01.002.
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Godfrey, R;
Quinlivan, R;
(2016)
Skeletal muscle disorders of glycogenolysis and glycolysis.
Nature Reviews Neurology
, 12
(7)
pp. 393-402.
10.1038/nrneurol.2016.75.
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Holmes, S;
Male, AJ;
Ramdharry, G;
Woodward, C;
James, N;
Skorupinska, I;
Skorupinska, M;
... Pitceathly, RDS; + view all
(2018)
Vestibular dysfunction: a frequent problem for adults with mitochondrial disease.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2018-319267.
(In press).
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Jones, DM;
Lopes, L;
Quinlivan, R;
Elliott, PM;
Khanji, MY;
(2019)
Cardiac manifestations of McArdle disease.
European Heart Journal
, 40
(4)
pp. 397-398.
10.1093/eurheartj/ehy783.
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Karazi, Walaa;
Coppers, Jacqueline;
Maas, Daphne;
Cup, Edith;
Bloemen, Bart;
Voet, Nicole;
Groothuis, Jan T;
... Voermans, Nicol C; + view all
(2024)
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.
Journal of Neuromuscular Diseases
, 11
(1)
pp. 103-116.
10.3233/JND-230027.
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Knuiman, GJ;
Kusters, B;
Eshuis, L;
Snoeck, M;
Lammens, M;
Heytens, L;
De Ridder, W;
... Voermans, NC; + view all
(2019)
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Journal of Neurology
, 266
(4)
pp. 876-887.
10.1007/s00415-019-09209-z.
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Kouwenberg, CV;
Voermans, NC;
Quinlivan, R;
van den Engel-Hoek, L;
(2018)
Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints.
Journal of Neuromuscular Diseases
, 5
(3)
pp. 353-357.
10.3233/JND-180320.
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Landfeldt, E;
Aleman, A;
Abner, S;
Zhang, R;
Werner, C;
Tomazos, I;
Lochmueller, H;
(2024)
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading.
Journal of Neuromuscular Diseases
, 11
(1)
pp. 25-57.
10.3233/JND-230094.
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Lukacs, Z;
Cobos, PN;
Wenninger, S;
Willis, TA;
Guglieri, M;
Roberts, M;
Quinlivan, R;
... Schoser, B; + view all
(2016)
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
NeuroIogy
, 87
(3)
pp. 295-298.
10.1212/WNL.0000000000002758.
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Macken, William L;
Falabella, Micol;
McKittrick, Caroline;
Pizzamiglio, Chiara;
Ellmers, Rebecca;
Eggleton, Kelly;
Woodward, Cathy E;
... Pitceathly, Robert DS; + view all
(2022)
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Nature Communications
, 13
, Article 6324. 10.1038/s41467-022-32908-7.
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Mahroo, OA;
Khan, KN;
Wright, G;
Ockrim, Z;
Scalco, RS;
Robson, AG;
Tufail, A;
... Webster, AR; + view all
(2019)
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Ophthalmology
, 126
(2)
pp. 320-322.
10.1016/j.ophtha.2018.09.013.
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Matthews, E;
Neuwirth, C;
Jaffer, F;
Scalco, RS;
Fialho, D;
Parton, M;
Raja Rayan, D;
... Hanna, MG; + view all
(2018)
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology
, 90
(5)
e412-e418.
10.1212/WNL.0000000000004894.
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Muntoni, F;
Domingos, J;
Manzur, AY;
Mayhew, A;
Guglieri, M;
UK NorthStar Network, .;
Sajeev, G;
... Ward, SJ; + view all
(2019)
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.
PLoS One
, 14
(9)
, Article e0221097. 10.1371/journal.pone.0221097.
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Narayan, S;
Pietrusz, A;
Allen, J;
Docherty, K;
Emery, N;
Ennis, M;
Flesher, R;
... ANSN; + view all
(2022)
Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) - Therapy Guidelines.
Journal of Neuromuscular Diseases
, 9
(3)
pp. 365-381.
10.3233/JND-210707.
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Nart, Luca;
Desikan, Mahalekshmi;
Pietrusz, Aleksandra;
Savvatis, Konstantinos;
Quinlivan, Ros;
(2024)
Neurodiversity, treatment compliance and survival in adults with Duchenne muscular dystrophy: A single-centre retrospective cohort review.
Neuromuscular Disorders
, 35
pp. 13-18.
10.1016/j.nmd.2023.12.003.
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O'Callaghan, FJK;
Edwards, SW;
Dietrich Alber, F;
Cortina Borja, M;
Hancock, E;
Johnson, AL;
Kennedy, CR;
... Osborne, JP; + view all
(2018)
Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial.
The Lancet Child & Adolescent Health
, 2
(10)
pp. 715-725.
10.1016/S2352-4642(18)30244-X.
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Pietrusz, A;
Scalco, RS;
Quinlivan, R;
(2018)
Resistance Exercise Training in McArdle Disease: Myth or Reality?
Case Reports in Neurological Medicine
, 2018
, Article 9658251. 10.1155/2018/9658251.
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Pizzamiglio, C;
Mahroo, OA;
Khan, KN;
Patasin, M;
Quinlivan, R;
(2021)
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.
Journal of Inherited Metabolic Disease
10.1002/jimd.12438.
(In press).
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Pizzamiglio, C;
Lahiri, N;
Nirmalananthan, N;
Sood, B;
Somalanka, S;
Ostrowski, P;
Phadke, R;
... Quinlivan, R; + view all
(2020)
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Neuromuscular Disorders
, 30
(7)
pp. 566-571.
10.1016/j.nmd.2020.05.004.
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Poole, OV;
Everett, CM;
Gandhi, S;
Marino, S;
Bugiardini, E;
Woodward, C;
Lam, A;
... Pitceathly, RDS; + view all
(2019)
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
Mitochondrion
, 47
pp. 294-297.
10.1016/j.mito.2019.02.004.
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Poole, OV;
Horga, A;
Hardy, SA;
Bugiardini, E;
Woodward, CE;
Hargreaves, IP;
Merve, A;
... Pitceathly, RDS; + view all
(2020)
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
Neurology Genetics
, 6
(2)
, Article e413. 10.1212/nxg.0000000000000413.
(In press).
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Poole, OV;
Uchiyama, T;
Skorupinska, I;
Skorupinska, M;
Germain, L;
Kozyra, D;
Holmes, S;
... Pitceathly, RDS; + view all
(2019)
Urogenital symptoms in mitochondrial disease: overlooked and undertreated.
European Journal of Neurology
, 26
(8)
pp. 1111-1120.
10.1111/ene.13952.
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Quinlivan, R;
Messer, B;
Murphy, P;
Astin, R;
Mukherjee, R;
Khan, J;
Emmanuel, A;
... Hewamadduma, C; + view all
(2021)
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy.
Journal of Neuromuscular Diseases
, 8
(6)
pp. 899-926.
10.3233/JND-200609.
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Quinlivan, R;
Murphy, E;
Pula, S;
Pain, A;
Brain, H;
Scopes, G;
Gjika, F;
... Houlden, H; + view all
(2024)
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.
Neuromuscular Disorders
, 34
pp. 49-53.
10.1016/j.nmd.2023.11.012.
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Quinlivan, R;
Andreu, AL;
Marti, R;
(2017)
211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.
Neuromuscular Disorders
, 27
(12)
pp. 1143-1151.
10.1016/j.nmd.2017.09.002.
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Quinlivan, R;
Desikan, M;
Cruces, F;
Pietrusz, A;
Savvatis, K;
(2021)
Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre.
Neuromuscular Disorders
, 31
(7)
pp. 603-606.
10.1016/j.nmd.2021.04.005.
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Rees, M;
Nikoopour, R;
Fukuzawa, A;
Kho, AL;
Fernandez-Garcia, MA;
Wraige, E;
Bodi, I;
... Gautel, M; + view all
(2021)
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathologia
10.1007/s00401-020-02257-0.
(In press).
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Ricotti, V;
Ridout, DA;
Pane, M;
Main, M;
Mayhew, A;
Mercuri, E;
Manzur, AY;
... on behalf of UK NorthStar Clinical Network, .; + view all
(2016)
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.
Journal of Neurology, Neurosurgery & Psychiatry
, 87
pp. 149-155.
10.1136/jnnp-2014-309405.
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Sarkozy, Anna;
Quinlivan, Rosaline;
Bourke, John P;
Ferlini, Alessandra;
ENMC 263rd Workshop Study Group;
(2023)
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022.
Neuromuscular Disorders
, 33
(3)
pp. 274-284.
10.1016/j.nmd.2023.01.003.
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Savvatis, K;
Vissing, CR;
Klouvi, L;
Florian, A;
Rahman, M;
Béhin, A;
Fayssoil, A;
... Wahbi, K; + view all
(2022)
Cardiac Outcomes in Adults With Mitochondrial Diseases.
Journal of the American College of Cardiology
, 80
(15)
pp. 1421-1430.
10.1016/j.jacc.2022.08.716.
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Scalco, RS;
Chatfield, S;
Junejo, MH;
Booth, S;
Pattni, J;
Godfrey, R;
Quinlivan, R;
(2016)
McArdle Disease Misdiagnosed as Meningitis.
American Journal of Case Reports
, 17
pp. 905-908.
10.12659/AJCR.900967.
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Scalco, RS;
Gardiner, AR;
Pitceathly, RD;
Zanoteli, E;
Becker, J;
Holton, JL;
Houlden, H;
... Quinlivan, R; + view all
(2015)
Rhabdomyolysis: a genetic perspective.
Orphanet Journal of Rare Diseases
, 10
, Article 51. 10.1186/s13023-015-0264-3.
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Scalco, RS;
Gardiner, AR;
Pitceathly, RDS;
Hilton-Jones, D;
Schapira, AH;
Turner, C;
Parton, M;
... Quinlivan, R; + view all
(2016)
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies.
Neuromuscular Disorders
, 26
(8)
pp. 504-510.
10.1016/j.nmd.2016.05.006.
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Scalco, RS;
Lorenzoni, PJ;
Lynch, DS;
Martins, WA;
Jungbluth, H;
Quinlivan, R;
Becker, J;
(2017)
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
American Journal of Case Reports
, 18
pp. 17-21.
10.12659/AJCR.900970.
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Scalco, RS;
Morrow, JM;
Booth, S;
Chatfield, S;
Godfrey, R;
Quinlivan, R;
(2017)
Misdiagnosis is an important factor for diagnostic delay in McArdle disease.
Neuromuscular Disorders
, 27
(9)
pp. 852-855.
10.1016/j.nmd.2017.04.013.
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Scalco, RS;
Quinlivan, RM;
Nastasi, L;
Jaffer, F;
Hanna, MG;
(2020)
Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions.
Neuromuscular Disorders
, 30
(2)
pp. 173-179.
10.1016/j.nmd.2019.11.013.
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Scalco, RS;
Skorupinska, I;
Blochet, C;
Habib, M;
Matthews, E;
Morrow, J;
Hanna, M;
(2016)
Bumetanide in hypokalaemic periodic paralysis: a randomised, double-blind, placebo controlled phase II clinical trial with a crossover design.
Neuromuscular Disorders
, 26
(S2)
, Article P.373. 10.1016/j.nmd.2016.06.402.
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Scalco, RS;
Snoeck, M;
Treves, S;
Quinlivan, R;
Laforet, P;
Jungbluth, H;
Voermans, N;
(2016)
Exertional rhabdomyolysis: Physiological response or manifestation of an underlying myopathy?
BMJ Open Sport & Exercise Medicine
, 2
(1)
, Article e000151. 10.1136/bmjsem-2016-000151.
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Scalco, RS;
Stemmerik, M;
Løkken, N;
Vissing, CR;
Madsen, KL;
Michalak, Z;
Pattni, J;
... Quinlivan, R; + view all
(2020)
Results of an open label feasibility study of sodium valproate in people with McArdle disease.
Neuromuscular Disorders
, 30
(9)
pp. 734-741.
10.1016/j.nmd.2020.04.009.
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Scalco, RS;
Voermans, N;
Jungbluth, H;
Quinlivan, R;
(2016)
Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis.
European Journal of Neurology
, 23
(S2)
p. 689.
10.1111/ene.13094.
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Scalco, RS;
Voermans, N;
Piercy, R;
Jungbluth, H;
Quinlivan, R;
(2016)
Dantrolene as a treatment option for RYR1-related rhabdomyolysis.
Neuromuscular Disorders
, 26
(S2)
, Article P.165. 10.1016/j.nmd.2016.06.402.
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Scalco, RS;
Voermans, NC;
Piercy, RJ;
Jungbluth, H;
Quinlivan, R;
(2016)
Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis.
European Journal of Neurology
, 23
(8)
e56-e57.
10.1111/ene.13051.
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Schon, KR;
Horvath, R;
Wei, W;
Calabrese, C;
Tucci, A;
Ibañez, K;
Ratnaike, T;
... Genomics England Research Consortium; + view all
(2021)
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
BMJ
, 375
, Article e066288. 10.1136/bmj-2021-066288.
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Slade, SC;
Dionne, CE;
Underwood, M;
Buchbinder, R;
Beck, B;
Bennell, K;
Brosseau, L;
... White, C; + view all
(2016)
Consensus on Exercise Reporting Template (CERT): Modified Delphi Study.
Physical Therapy
, 96
(10)
pp. 1514-1524.
10.2522/ptj.20150668.
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Trucco, F;
Domingos, J;
Tay, CG;
Ridout, D;
Maresh, K;
Munot, P;
Sarkozy, A;
... Muntoni, F; + view all
(2020)
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.
Chest
, 158
(4)
pp. 1606-1616.
10.1016/j.chest.2020.04.043.
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Ullmann, U;
D’Argenzio, L;
Mathur, S;
Whyte, T;
Quinlivan, R;
Longman, C;
Farrugia, ME;
... Muntoni, F; + view all
(2018)
ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects.
Neuromuscular Disorders
, 28
(9)
pp. 741-749.
10.1016/j.nmd.2018.05.012.
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Wigley, R;
Scalco, R S;
Gardiner, A R;
Godfrey, R;
Booth, S;
Kirk, R;
Hilton-Jones, D;
... Quinlivan, R; + view all
(2019)
The need for biochemical testing in beta‐enolase deficiency in the genomic era.
JIMD Reports
, 50
(1)
pp. 40-43.
10.1002/jmd2.12070.
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Wigley, R;
Scalco, RS;
Gardiner, A;
Booth, S;
Chatfield, S;
Godfrey, R;
Kirk, R;
... Quinlivan, R; + view all
(2016)
Muscle b-enolase deficiency presenting with different kinetic profiles in muscle tissue.
European Journal of Neurology
, 23
(S2)
p. 689.
10.1111/ene.13094.
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Report
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Scalco, Renata S;
Nastasi, Laura;
Hanna, Michael G;
Quinlivan, Ros;
(2017)
Re-audit on Unplanned Hospital Admissions in Patients with Neuromuscular Diseases.
Muscular Dystrophy UK: London, UK.
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Conference item
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Godfrey, R;
Scalco, R;
Booth, S;
Ellerton, C;
Kahraman, A;
Chatfield, S;
Desikan, M;
... Quinlivan, R; + view all
(2016)
Effect of a multi-disciplinary approach to diagnosis and management for non-lysosomal skeletal muscle glycogen storage disorders.
Presented at: 21st International Congress of the World Muscle Society, Granada, Spain.
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Pizzamiglio, C;
Mahroo, O;
Khan, K;
Patasin, M;
Quinlivan, R;
(2021)
Natural history of McArdle disease: a single centre study of a cohort of 220 patients.
Presented at: 26th International Congress of the World Muscle Society, Online conference.
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Scalco, RS;
Morrow, J;
Skorupinska, I;
Manole, AA;
Bellin, A;
Ricciardi, F;
Matthews, E;
... Fialho, D; + view all
(2018)
EPR2165: RCT assessing 2mg bumetanide as a therapeutic agent for a focal attack of weakness in Hypokalaemic Periodic Paralysis (HypoPP).
Presented at: 4th Congress of the European Academy of Neurology, Lisbon, Portugal.
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Scalco, RS;
Nastasi, L;
Hanna, MG;
Quinlivan, R;
(2018)
Reducing unplanned hospital admissions in patients with neuromuscular diseases: an NHS Re-audit.
Presented at: 11th Annual UK Neuromuscular Translational Research Conference, Cambridge, UK.
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Scalco, RS;
Nastasi, L;
Jaffer, F;
Quinlivan, R;
Hanna, MG;
(2018)
EPR1114: Reducing emergency hospital admissions in England: the importance of the co-ordination of care at specialised neuromuscular services.
Presented at: 4th Congress of the European Academy of Neurology, Lisbon, Portugal.
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