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1.

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.

Schuetz, C; Gerke, J; Ege, M; Walter, J; Kusters, M; Worth, A; Kanakry, J A; Dimitrova, D; Wolska-Kusnierz, B; Chen, K; Unal, E; Karakukcu, M; Pashchenko, O; Leiding, J; Kawai, T; Amrolia, P J; Berghuis, D; Buechner, J; Buchbinder, D; Cowan, M J; Gennery, A R; Güngör, T; Heimall, J; Miano, M; Meyts, I; Morris, E C; Rivière, J; Sharapova, S O; Shaw, P J; Slatter, M; Honig, M; Veys, P; Fischer, A; Cavazzana, M; Moshous, D; Schulz, A; Albert, M H; Puck, J M; Lankester, A C; Notarangelo, L D; Neven, B.

Blood ; 141(7): 713-724, 2023 02 16.

Artículo en Inglés | MEDLINE | ID: mdl-36279417

2.

TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis.

Appleby-Mallinder, C; Schaber, E; Kirby, J; Shaw, P J; Cooper-Knock, J; Heath, P R; Highley, J R.

Neuropathol Appl Neurobiol ; 47(1): 61-72, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-32365404

3.

The fractionation of phosphorus in UK chalk stream surface waters and its relevance to the regulation and management of water quality.

Shaw, P J; Leung, K-C; Clarke, D.

J Environ Manage ; 289: 112555, 2021 Jul 01.

Artículo en Inglés | MEDLINE | ID: mdl-33848882

4.

Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis.

Weinreich, M; Shepheard, S R; Verber, N; Wyles, M; Heath, P R; Highley, J R; Kirby, J; Shaw, P J.

Neuropathol Appl Neurobiol ; 46(3): 279-291, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-31498468

5.

Combined fused in sarcoma-positive (FUS+) basophilic inclusion body disease and atypical tauopathy presenting with an amyotrophic lateral sclerosis/motor neurone disease (ALS/MND)-plus phenotype.

Wharton, S B; Verber, N S; Wagner, B E; Highley, J R; Fillingham, D J; Waller, R; Strand, K; Ince, P G; Shaw, P J.

Neuropathol Appl Neurobiol ; 45(6): 586-596, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-30659642

6.

Population pharmacokinetics of carboplatin, etoposide and melphalan in children: a re-evaluation of paediatric dosing formulas for carboplatin in patients with normal or mild impairment of renal function.

Duong, J K; Veal, G J; Nath, C E; Shaw, P J; Errington, J; Ladenstein, R; Boddy, A V.

Br J Clin Pharmacol ; 85(1): 136-146, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30261554

7.

Creatine kinase enzyme level correlates positively with serum creatinine and lean body mass, and is a prognostic factor for survival in amyotrophic lateral sclerosis.

Rafiq, M K; Lee, E; Bradburn, M; McDermott, C J; Shaw, P J.

Eur J Neurol ; 23(6): 1071-8, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-27029589

8.

Establishing the UK DNA Bank for motor neuron disease (MND).

Smith, Lucy; Cupid, B C; Dickie, B G M; Al-Chalabi, A; Morrison, K E; Shaw, C E; Shaw, P J.

BMC Genet ; 16: 84, 2015 Jul 14.

Artículo en Inglés | MEDLINE | ID: mdl-26170009

9.

A phase II-III trial of olesoxime in subjects with amyotrophic lateral sclerosis.

Lenglet, T; Lacomblez, L; Abitbol, J L; Ludolph, A; Mora, J S; Robberecht, W; Shaw, P J; Pruss, R M; Cuvier, V; Meininger, V.

Eur J Neurol ; 21(3): 529-36, 2014 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-24447620

10.

Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation.

Kirby, J; Highley, J R; Cox, L; Goodall, E F; Hewitt, C; Hartley, J A; Hollinger, H C; Fox, M; Ince, P G; McDermott, C J; Shaw, P J.

Neuropathol Appl Neurobiol ; 39(5): 562-71, 2013 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-23228179

11.

Calcium dysregulation in relation to Alzheimer-type pathology in the ageing brain.

Garwood, C; Faizullabhoy, A; Wharton, S B; Ince, P G; Heath, P R; Shaw, P J; Baxter, L; Gelsthorpe, C; Forster, G; Matthews, F E; Brayne, C; Simpson, J E.

Neuropathol Appl Neurobiol ; 39(7): 788-99, 2013 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-23421725

12.

Outcomes of haematopoietic stem cell transplantation for inherited metabolic disorders: a report from the Australian and New Zealand Children's Haematology Oncology Group and the Australasian Bone Marrow Transplant Recipient Registry.

Mitchell, R; Nivison-Smith, I; Anazodo, A; Tiedemann, K; Shaw, P J; Teague, L; Fraser, C J; Carter, T L; Tapp, H; Alvaro, F; O'Brien, T A.

Pediatr Transplant ; 17(6): 582-8, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23802616

13.

Genetic inroads in familial ALS.

Shaw, P J.

Nat Genet ; 29(2): 103-4, 2001 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-11586285

14.

Analysis of brain and spinal MRI measures in a common domain to investigate directional neurodegeneration in motor neuron disease.

Toh, C; Keslake, A; Payne, T; Onwuegbuzie, A; Harding, J; Baster, K; Hoggard, N; Shaw, P J; Wilkinson, I D; Jenkins, T M.

J Neurol ; 270(3): 1682-1690, 2023 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-36509983

15.

European guidelines for diagnosis and treatment of adenovirus infection in leukemia and stem cell transplantation: summary of ECIL-4 (2011).

Matthes-Martin, S; Feuchtinger, T; Shaw, P J; Engelhard, D; Hirsch, H H; Cordonnier, C; Ljungman, P.

Transpl Infect Dis ; 14(6): 555-63, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-23146063

16.

Review: The role of mitochondria in the pathogenesis of amyotrophic lateral sclerosis.

Duffy, L M; Chapman, A L; Shaw, P J; Grierson, A J.

Neuropathol Appl Neurobiol ; 37(4): 336-52, 2011 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-21299590

17.

NRF2 as a therapeutic opportunity to impact in the molecular roadmap of ALS.

Jiménez-Villegas, J; Ferraiuolo, L; Mead, R J; Shaw, P J; Cuadrado, A; Rojo, A I.

Free Radic Biol Med ; 173: 125-141, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-34314817

18.

Population variation in oxidative stress and astrocyte DNA damage in relation to Alzheimer-type pathology in the ageing brain.

Simpson, J E; Ince, P G; Haynes, L J; Theaker, R; Gelsthorpe, C; Baxter, L; Forster, G; Lace, G L; Shaw, P J; Matthews, F E; Savva, G M; Brayne, C; Wharton, S B.

Neuropathol Appl Neurobiol ; 36(1): 25-40, 2010 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-19422529

19.

An evaluation of neurophysiological criteria used in the diagnosis of motor neuron disease.

Douglass, C P; Kandler, R H; Shaw, P J; McDermott, C J.

J Neurol Neurosurg Psychiatry ; 81(6): 646-9, 2010 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-20522872

20.

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype.

Lambrechts, D; Poesen, K; Fernández-Santiago, R; Al-Chalabi, A; Del Bo, R; Van Vught, P W J; Khan, S; Marklund, S L; Brockington, A; van Marion, I; Anneser, J; Shaw, C; Ludolph, A C; Leigh, N P; Comi, G P; Gasser, T; Shaw, P J; Morrison, K E; Andersen, P M; Van den Berg, L H; Thijs, V; Siddique, T; Robberecht, W; Carmeliet, P.

J Med Genet ; 46(12): 840-6, 2009 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-18413368

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