Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Cabrera-Serrano, Macarena; Caccavelli, Laure; Savarese, Marco; Vihola, Anna; Jokela, Manu; Johari, Mridul; Capiod, Thierry; Madrange, Marine; Bugiardini, Enrico; Brady, Stefen; Quinlivan, Rosaline; Merve, Ashirwad; Scalco, Renata; Hilton-Jones, David; Houlden, Henry; Aydin, Halil Ibrahim; Ceylaner, Serdar; Drewes, Sarah; Vockley, Jerry; Taylor, Rhonda L; Folland, Chiara; Kelly, Aasta; Goullee, Hayley; Ylikallio, Emil; Auranen, Mari; Tyynismaa, Henna; Udd, Bjarne; Forrest, Alistair R R; Davis, Mark R; Bratkovic, Drago; Manton, Nicholas; Robertson, Thomas; O'Gorman, Cullen; McCombe, Pamela; Laing, Nigel G; Phillips, Liza; de Lonlay, Pascale; Ravenscroft, Gianina.

Brain ; 145(11): 3985-3998, 2022 11 21.

Artigo em Inglês | MEDLINE | ID: mdl-34957489

2.

Longitudinal observational study investigating outcome measures for clinical trials in inclusion body myositis.

Sangha, Gina; Yao, Bohao; Lunn, Daniel; Skorupinska, Iwona; Germain, Louise; Kozyra, Damian; Parton, Matt; Miller, James; Hanna, Michael G; Hilton-Jones, David; Freebody, Jane; Machado, Pedro M.

J Neurol Neurosurg Psychiatry ; 2021 Apr 13.

Artigo em Inglês | MEDLINE | ID: mdl-33849999

3.

Thymus imaging in myasthenia gravis: The relevance in clinical practice.

Klimiec, Elzbieta; Quirke, Mary; Leite, Maria Isabel; Hilton-Jones, David.

Muscle Nerve ; 2018 Feb 09.

Artigo em Inglês | MEDLINE | ID: mdl-29424940

4.

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

Morís, Germán; Wood, Libby; FernáNdez-Torrón, Roberto; González Coraspe, José Andrés; Turner, Chris; Hilton-Jones, David; Norwood, Fiona; Willis, Tracey; Parton, Matt; Rogers, Mark; Hammans, Simon; Roberts, Mark; Househam, Elizabeth; Williams, Maggie; Lochmüller, Hanns; Evangelista, Teresinha.

Muscle Nerve ; 57(3): 380-387, 2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29053898

5.

Statin-related myopathies.

Hilton-Jones, David.

Pract Neurol ; 18(2): 97-105, 2018 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-29496886

6.

Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy.

Choudry, Tahira N; Hilton-Jones, David; Lennox, Graham; Houlden, Henry.

Pract Neurol ; 18(1): 52-56, 2018 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-29212862

7.

A protocol to develop clinical guidelines for inclusion-body myositis.

Jones, Katherine L; Sejersen, Thomas; Amato, Anthony A; Hilton-Jones, David; Schmidt, Jens; Wallace, Amanda C; Badrising, Umesh A; Rose, Michael R.

Muscle Nerve ; 53(4): 503-7, 2016 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-26800092

8.

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.

Benveniste, Olivier; Stenzel, Werner; Hilton-Jones, David; Sandri, Marco; Boyer, Olivier; van Engelen, Baziel G M.

Acta Neuropathol ; 129(5): 611-24, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25579751

9.

European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia.

Kyriakides, Theodoros; Angelini, Corrado; Vilchez, Juan; Hilton-Jones, David.

Muscle Nerve ; 61(2): E14-E15, 2020 02.

Artigo em Inglês | MEDLINE | ID: mdl-31820461

10.

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

Diot, Alan; Hinks-Roberts, Alex; Lodge, Tiffany; Liao, Chunyan; Dombi, Eszter; Morten, Karl; Brady, Stefen; Fratter, Carl; Carver, Janet; Muir, Rebecca; Davis, Ryan; Green, Charlotte J; Johnston, Iain; Hilton-Jones, David; Sue, Carolyn; Mortiboys, Heather; Poulton, Joanna.

Pharmacol Res ; 100: 24-35, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26196248

11.

Myasthenia gravis: Association of British Neurologists' management guidelines.

Sussman, Jon; Farrugia, Maria E; Maddison, Paul; Hill, Marguerite; Leite, M Isabel; Hilton-Jones, David.

Pract Neurol ; 15(3): 199-206, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25977271

12.

Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy.

Lamont, Phillipa J; Wallefeld, William; Hilton-Jones, David; Udd, Bjarne; Argov, Zohar; Barboi, Alexandru C; Bonneman, Carsten; Boycott, Kym M; Bushby, Kate; Connolly, Anne M; Davies, Nicholas; Beggs, Alan H; Cox, Gerald F; Dastgir, Jahannaz; DeChene, Elizabeth T; Gooding, Rebecca; Jungbluth, Heinz; Muelas, Nuria; Palmio, Johanna; Penttilä, Sini; Schmedding, Eric; Suominen, Tiina; Straub, Volker; Staples, Christopher; Van den Bergh, Peter Y K; Vilchez, Juan J; Wagner, Kathryn R; Wheeler, Patricia G; Wraige, Elizabeth; Laing, Nigel G.

Hum Mutat ; 35(7): 868-79, 2014 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-24664454

13.

Myotonic dystrophy: diagnosis, management and new therapies.

Turner, Chris; Hilton-Jones, David.

Curr Opin Neurol ; 27(5): 599-606, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25121518

14.

Myositis mimics: how to recognize them.

Hilton-Jones, David.

Curr Opin Rheumatol ; 26(6): 663-70, 2014 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25105740

15.

Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.

Norwood, Fiona; Dhanjal, Mandish; Hill, Marguerite; James, Natalie; Jungbluth, Heinz; Kyle, Pippa; O'Sullivan, Geraldine; Palace, Jacqueline; Robb, Stephanie; Williamson, Catherine; Hilton-Jones, David; Nelson-Piercy, Catherine.

J Neurol Neurosurg Psychiatry ; 85(5): 538-43, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-23757420

16.

A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.

Graham, Christopher D; Weinman, John; Sadjadi, Reza; Chalder, Trudie; Petty, Richard; Hanna, Mike G; Turner, Chris; Parton, Matt; Maddison, Paul; Radunovic, Aleksandar; Longman, Cheryl; Robb, Yvonne; Bushby, Kate; Hilton-Jones, David; Rose, Michael R.

Clin Rehabil ; 28(5): 508-19, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24240060

17.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy, Anna; Hicks, Debbie; Hudson, Judith; Laval, Steve H; Barresi, Rita; Hilton-Jones, David; Deschauer, Marcus; Harris, Elizabeth; Rufibach, Laura; Hwang, Esther; Bashir, Rumaisa; Walter, Maggie C; Krause, Sabine; van den Bergh, Peter; Illa, Isabel; Pénisson-Besnier, Isabelle; De Waele, Liesbeth; Turnbull, Doug; Guglieri, Michela; Schrank, Bertold; Schoser, Benedikt; Seeger, Jürgen; Schreiber, Herbert; Gläser, Dieter; Eagle, Michelle; Bailey, Geraldine; Walters, Richard; Longman, Cheryl; Norwood, Fiona; Winer, John; Muntoni, Francesco; Hanna, Michael; Roberts, Mark; Bindoff, Laurence A; Brierley, Charlotte; Cooper, Robert G; Cottrell, David A; Davies, Nick P; Gibson, Andrew; Gorman, Gráinne S; Hammans, Simon; Jackson, Andrew P; Khan, Aijaz; Lane, Russell; McConville, John; McEntagart, Meriel; Al-Memar, Ali; Nixon, John; Panicker, Jay; Parton, Matt.

Hum Mutat ; 34(8): 1111-8, 2013 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-23606453

18.

Clinical assessment determines the diagnosis of inclusion body myositis independently of pathological features.

Brady, Stefen; Squier, Waney; Hilton-Jones, David.

J Neurol Neurosurg Psychiatry ; 84(11): 1240-6, 2013 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-23864699

19.

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.

Irobi, Joy; Van Impe, Katrien; Seeman, Pavel; Jordanova, Albena; Dierick, Ines; Verpoorten, Nathalie; Michalik, Andrej; De Vriendt, Els; Jacobs, An; Van Gerwen, Veerle; Vennekens, Krist'l; Mazanec, Radim; Tournev, Ivailo; Hilton-Jones, David; Talbot, Kevin; Kremensky, Ivo; Van Den Bosch, Ludo; Robberecht, Wim; Van Vandekerckhove, Joël; Van Broeckhoven, Christine; Gettemans, Jan; De Jonghe, Peter; Timmerman, Vincent.

Nat Genet ; 36(6): 597-601, 2004 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-15122253

20.

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Evgrafov, Oleg V; Mersiyanova, Irena; Irobi, Joy; Van Den Bosch, Ludo; Dierick, Ines; Leung, Conrad L; Schagina, Olga; Verpoorten, Nathalie; Van Impe, Katrien; Fedotov, Valeriy; Dadali, Elena; Auer-Grumbach, Michaela; Windpassinger, Christian; Wagner, Klaus; Mitrovic, Zoran; Hilton-Jones, David; Talbot, Kevin; Martin, Jean-Jacques; Vasserman, Natalia; Tverskaya, Svetlana; Polyakov, Alexander; Liem, Ronald K H; Gettemans, Jan; Robberecht, Wim; De Jonghe, Peter; Timmerman, Vincent.

Nat Genet ; 36(6): 602-6, 2004 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-15122254

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