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Number of items: 179.

Article

Ahmed, M; Machado, PM; Miller, A; Spicer, C; Herbelin, L; He, J; Noel, J; ... Greensmith, L; + view all Ahmed, M; Machado, PM; Miller, A; Spicer, C; Herbelin, L; He, J; Noel, J; Wang, Y; McVey, AL; Pasnoor, M; Gallagher, P; Statland, J; Lu, CH; Kalmar, B; Brady, S; Sethi, H; Samandouras, G; Parton, M; Holton, JL; Weston, A; Collinson, L; Taylor, JP; Schiavo, G; Hanna, MG; Barohn, RJ; Dimachkie, MM; Greensmith, L; - view fewer (2016) Targeting protein homeostasis in sporadic inclusion body myositis. Science Translational Medicine , 8 (331) , Article 331ra41. 10.1126/scitranslmed.aad4583.

Akman, G; Desai, R; Bailey, LJ; Yasukawa, T; Rosa, ID; Durigon, R; Holmes, JB; ... Holt, IJ; + view all Akman, G; Desai, R; Bailey, LJ; Yasukawa, T; Rosa, ID; Durigon, R; Holmes, JB; Moss, CF; Mennuni, M; Houlden, H; Crouch, RJ; Hanna, MG; Pitceathly, RDS; Spinazzola, A; Holt, IJ; - view fewer (2016) Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria. Proceedings of The National Academy of Sciences of The United States of America (PNAS) , 113 (30) E4276-E4285. 10.1073/pnas.1600537113.

Altamura, C; Lucchiari, S; Sahbani, D; Ulzi, G; Comi, GP; D'Ambrosio, P; Petillo, R; ... Desaphy, J-F; + view all Altamura, C; Lucchiari, S; Sahbani, D; Ulzi, G; Comi, GP; D'Ambrosio, P; Petillo, R; Politano, L; Vercelli, L; Mongini, T; Dotti, MT; Cardani, R; Meola, G; Lo Monaco, M; Matthews, E; Hanna, MG; Carratù, MR; Conte, D; Imbrici, P; Desaphy, J-F; - view fewer (2018) The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel. Human Mutation , 39 (9) pp. 1273-1283. 10.1002/humu.23581.

Amato, AA; Hanna, MG; Machado, PM; Badrising, UA; Chinoy, H; Benveniste, O; Karanam, AK; ... RESILIENT Study Extension Group; + view all Amato, AA; Hanna, MG; Machado, PM; Badrising, UA; Chinoy, H; Benveniste, O; Karanam, AK; Wu, M; Tankó, LB; Schubert-Tennigkeit, AA; Papanicolaou, DA; Lloyd, TE; Needham, M; Liang, C; Reardon, KA; de Visser, M; Ascherman, DP; Barohn, RJ; Dimachkie, MM; Miller, JAL; Kissel, JT; Oskarsson, B; Joyce, NC; Van den Bergh, P; Baets, J; De Bleecker, JL; Karam, C; David, WS; Mirabella, M; Nations, SP; Jung, HH; Pegoraro, E; Maggi, L; Rodolico, C; Filosto, M; Shaibani, AI; Sivakumar, K; Goyal, NA; Mori-Yoshimura, M; Yamashita, S; Suzuki, N; Aoki, M; Katsuno, M; Morihata, H; Murata, K; Nodera, H; Nishino, I; Romano, CD; Williams, VSL; Vissing, J; Auberson, LZ; RESILIENT Study Extension Group; - view fewer (2021) Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-Term Extension of RESILIENT. Neurology , 96 (12) e1595-e1607. 10.1212/WNL.0000000000011626.

Armirola-Ricaurte, C; Zonnekein, N; Koutsis, G; Amor-Barris, S; Pelayo-Negro, AL; Atkinson, D; Efthymiou, S; ... Jordanova, A; + view all Armirola-Ricaurte, C; Zonnekein, N; Koutsis, G; Amor-Barris, S; Pelayo-Negro, AL; Atkinson, D; Efthymiou, S; Turchetti, V; Dinopoulos, A; Garcia, A; Karakaya, M; Moris, G; Polat, AI; Yiş, U; Espinos, C; Van de Vondel, L; De Vriendt, E; Karadima, G; Wirth, B; Hanna, M; Houlden, H; Berciano, J; Jordanova, A; - view fewer (2024) Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders. Genetics in Medicine , 26 (6) , Article 101117. 10.1016/j.gim.2024.101117.

Armirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa Ahmed; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; ... Jordanova, Albena; + view all Armirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa Ahmed; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; Seneca, Sara; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael; Houlden, Henry; Lunn, Michael P; Reilly, Mary M; Rasic, Vedrana Milic; Jordanova, Albena; - view fewer (2025) Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. Brain , Article awaf300. 10.1093/brain/awaf300.

Bennett, Emily; Holmes, Sarah; Koohi, Nehzat; Islam, Saiful; Bancroft, Matthew; Male, Amanda; Hanna, Michael G; ... Kaski, Diego; + view all Bennett, Emily; Holmes, Sarah; Koohi, Nehzat; Islam, Saiful; Bancroft, Matthew; Male, Amanda; Hanna, Michael G; Pitceathly, Robert DS; Kaski, Diego; - view fewer (2022) Self-reported postural symptoms predict vestibular dysfunction and falls in patients with multi-sensory impairment. Journal of Neurology , 269 (5) pp. 2788-2791. 10.1007/s00415-021-10921-y.

Bishop, CA; Ricotti, V; Sinclair, CDJ; Evans, MRB; Butler, JW; Morrow, JM; Hanna, MG; ... Janiczek, RL; + view all Bishop, CA; Ricotti, V; Sinclair, CDJ; Evans, MRB; Butler, JW; Morrow, JM; Hanna, MG; Matthews, PM; Yousry, TA; Muntoni, F; Thornton, JS; Newbould, RD; Janiczek, RL; - view fewer (2018) Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy. Frontiers in Neurology , 9 , Article 9. 10.3389/fneur.2018.00009.

Brady, S; Healy, EG; Gang, Q; Parton, M; Quinlivan, R; Jacob, S; Curtis, E; ... Holton, JL; + view all Brady, S; Healy, EG; Gang, Q; Parton, M; Quinlivan, R; Jacob, S; Curtis, E; Al-Sarraj, S; Sewry, CA; Hanna, MG; Houlden, H; Beeson, D; Holton, JL; - view fewer (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.

Brady, S; Squier, W; Sewry, C; Hanna, M; Hilton-Jones, D; Holton, JL; (2014) A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis. BMJ Open , 4 (4) , Article e004552. 10.1136/bmjopen-2013-004552.

Broomfield, A; Sweeney, MG; Woodward, CE; Fratter, C; Morris, AM; Leonard, JV; Abulhoul, L; ... Rahman, S; + view all Broomfield, A; Sweeney, MG; Woodward, CE; Fratter, C; Morris, AM; Leonard, JV; Abulhoul, L; Grunewald, S; Clayton, PT; Hanna, MG; Poulton, J; Rahman, S; - view fewer (2015) Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. Journal of Inherited Metabolic Disease , 38 (3) pp. 445-457. 10.1007/s10545-014-9778-4.

Bugiardini, Enrico; Nunes, Andreia M; Oliveira-Santos, Ariany; Dagda, Marisela; Fontelonga, Tatiana M; Barraza-Flores, Pamela; Pittman, Alan M; ... Burkin, Dean J; + view all Bugiardini, Enrico; Nunes, Andreia M; Oliveira-Santos, Ariany; Dagda, Marisela; Fontelonga, Tatiana M; Barraza-Flores, Pamela; Pittman, Alan M; Morrow, Jasper M; Parton, Matthew; Houlden, Henry; Elliott, Perry M; Syrris, Petros; Maas, Roderick P; Akhtar, Mohammed M; Küsters, Benno; Raaphorst, Joost; Schouten, Meyke; Kamsteeg, Erik-Jan; van Engelen, Baziel; Hanna, Michael G; Phadke, Rahul; Lopes, Luis R; Matthews, Emma; Burkin, Dean J; - view fewer (2022) Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice. Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease , Article e026494. 10.1161/JAHA.122.026494. (In press).

Bugiardini, E; Bottani, E; Marchet, S; Poole, OV; Beninca, C; Horga, A; Woodward, C; ... Pitceathly, RDS; + view all Bugiardini, E; Bottani, E; Marchet, S; Poole, OV; Beninca, C; Horga, A; Woodward, C; Lam, A; Hargreaves, I; Chalasani, A; Valerio, A; Lamantea, E; Venner, K; Holton, JL; Zeviani, M; Houlden, H; Quinlivan, R; Lamperti, C; Hanna, MG; Pitceathly, RDS; - view fewer (2020) Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology Genetics , 6 (1) , Article e381. 10.1212/nxg.0000000000000381.

Bugiardini, E; Khan, A; Phadke, R; Lynch, DS; Cortese, A; Feng, L; Gang, Q; ... Hanna, MG; + view all Bugiardini, E; Khan, A; Phadke, R; Lynch, DS; Cortese, A; Feng, L; Gang, Q; Pittman, AM; Morrow, JM; Turner, C; Carr, AS; Quinlivan, R; Rossor, AM; Holton, J; Parton, M; Blake, JC; Reilly, MM; Houlden, H; Matthews, E; Hanna, MG; - view fewer (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.

Bugiardini, E; Mitchell, AL; Rosa, ID; Horning-Do, H-T; Pitmann, A; Poole, OV; Holton, JL; ... Spinazzola, A; + view all Bugiardini, E; Mitchell, AL; Rosa, ID; Horning-Do, H-T; Pitmann, A; Poole, OV; Holton, JL; Shah, S; Woodward, C; Hargreaves, I; Quinlivan, R; Amunts, A; Wiesner, RJ; Houlden, H; Holt, IJ; Hanna, MG; Pitceathly, RDS; Spinazzola, A; - view fewer MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Human Molecular Genetics 10.1093/hmg/ddz093. (In press).

Bugiardini, E; Morrow, JM; Shah, S; Woods, CL; Lynch, DS; Pitmann, AM; Reilly, MM; ... Yousry, TA; + view all Bugiardini, E; Morrow, JM; Shah, S; Woods, CL; Lynch, DS; Pitmann, AM; Reilly, MM; Houlden, H; Matthews, E; Parton, M; Hanna, MG; Straub, V; Yousry, TA; - view fewer (2018) The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies. Frontiers in Neurology , 9 , Article 456. 10.3389/fneur.2018.00456.

Bugiardini, E; Poole, OV; Manole, A; Pittman, AM; Horga, A; Hargreaves, I; Woodward, CE; ... Pitceathly, RDS; + view all Bugiardini, E; Poole, OV; Manole, A; Pittman, AM; Horga, A; Hargreaves, I; Woodward, CE; Sweeney, MG; Holton, JL; Taanman, J-W; Plant, GT; Poulton, J; Zeviani, M; Ghezzi, D; Taylor, J; Smith, C; Fratter, C; Kanikannan, MA; Paramasivam, A; Thangaraj, K; Spinazzola, A; Holt, IJ; Houlden, H; Hanna, MG; Pitceathly, RDS; - view fewer (2017) Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. Neurology Genetics , 3 (3) , Article e149. 10.1212/NXG.0000000000000149.

Bugiardini, E; Pope, S; Feichtinger, RG; Poole, OV; Pittman, AM; Woodward, CE; Heales, S; ... Pitceathly, RDS; + view all Bugiardini, E; Pope, S; Feichtinger, RG; Poole, OV; Pittman, AM; Woodward, CE; Heales, S; Quinlivan, R; Houlden, H; Mayr, JA; Hanna, MG; Pitceathly, RDS; - view fewer (2019) Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases. Journal Of Clinical Medicine , 8 (7) , Article 991. 10.3390/jcm8070991.

Bugiardini, E; Rossor, AM; Lynch, DS; Swash, M; Pittman, AM; Blake, JC; Hanna, MG; ... Matthews, E; + view all Bugiardini, E; Rossor, AM; Lynch, DS; Swash, M; Pittman, AM; Blake, JC; Hanna, MG; Houlden, H; Holton, JL; Reilly, MM; Matthews, E; - view fewer (2017) Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. Neurology Genetics , 3 (4) , Article e168. 10.1212/NXG.0000000000000168.

Burge, JA; Hanna, MG; Schorge, S; (2013) Nongenomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle. Muscle & nerve , 48 (4) 589 - 591. 10.1002/mus.23887.

Cea, G; Andreu, D; Fletcher, E; Ramdas, S; Sud, R; Hanna, MG; Matthews, E; (2020) Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved]. Wellcome Open Research , 5 , Article 57. 10.12688/wellcomeopenres.15798.2.

Clout, AE; Della Pasqua, O; Hanna, MG; Orlu, M; Pitceathly, RDS; (2019) Drug repurposing in neurological diseases: an integrated approach to reduce trial and error. Journal of Neurology, Neurosurgery and Psychiatry , 90 (11) pp. 1270-1275. 10.1136/jnnp-2019-320879.

Cortese, A; Plagnol, V; Brady, S; Simone, R; Lashley, T; Acevedo-Arozena, A; de Silva, R; ... Fratta, P; + view all Cortese, A; Plagnol, V; Brady, S; Simone, R; Lashley, T; Acevedo-Arozena, A; de Silva, R; Greensmith, L; Holton, J; Hanna, MG; Fisher, EM; Fratta, P; - view fewer (2014) Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiology of Aging , 35 (6) pp. 1491-1498. 10.1016/j.neurobiolaging.2013.12.029.

Cottenie, E; Kochanski, A; Jordanova, A; Bansagi, B; Zimon, M; Horga, A; Jaunmuktane, Z; ... Houlden, H; + view all Cottenie, E; Kochanski, A; Jordanova, A; Bansagi, B; Zimon, M; Horga, A; Jaunmuktane, Z; Saveri, P; Rasic, VM; Baets, J; Bartsakoulia, M; Ploski, R; Teterycz, P; Nikolic, M; Quinlivan, R; Laura, M; Sweeney, MG; Taroni, F; Lunn, MP; Moroni, I; Gonzalez, M; Hanna, MG; Bettencourt, C; Chabrol, E; Franke, A; von Au, K; Schilhabel, M; Kabzińska, D; Hausmanowa-Petrusewicz, I; Brandner, S; Lim, SC; Song, H; Choi, BO; Horvath, R; Chung, KW; Zuchner, S; Pareyson, D; Harms, M; Reilly, MM; Houlden, H; - view fewer (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.

Echaniz-Laguna, A; Biancalana, V; Nadaj-Pakleza, A; Fournier, E; Matthews, E; Hanna, MG; Männikkö, R; (2020) Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome. Journal of Neurology, Neurosurgery, and Psychiatry , 91 (8) pp. 898-900. 10.1136/jnnp-2020-323173.

Elia, N; Palmio, J; Castañeda, MS; Shieh, PB; Quinonez, M; Suominen, T; Hanna, MG; ... Cannon, SC; + view all Elia, N; Palmio, J; Castañeda, MS; Shieh, PB; Quinonez, M; Suominen, T; Hanna, MG; Männikkö, R; Udd, B; Cannon, SC; - view fewer (2019) Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4. Neurology , 92 e1-e11. 10.1212/WNL.0000000000007185.

Elmansy, Mostafa; Morrow, Jasper M; Shah, Sachit; Fischmann, Arne; Wastling, Stephen; Reilly, Mary M; Hanna, Michael G; ... Yousry, Tarek A; + view all Elmansy, Mostafa; Morrow, Jasper M; Shah, Sachit; Fischmann, Arne; Wastling, Stephen; Reilly, Mary M; Hanna, Michael G; Helmy, Eman Mohamed; El-Essawy, Saleh Saleh; Thornton, John S; Yousry, Tarek A; - view fewer (2022) Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI. Muscle & Nerve , 66 (6) pp. 744-749. 10.1002/mus.27728.

Falabella, M; Vernon, HJ; Hanna, MG; Claypool, SM; Pitceathly, RDS; (2021) Cardiolipin, Mitochondria, and Neurological Disease. Trends in Endocrinology & Metabolism 10.1016/j.tem.2021.01.006. (In press).

Fialho, D; Kullmann, DM; Hanna, MG; Schorge, S; (2008) Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita. Neuromuscular Disorders , 18 (11) 869 - 872. 10.1016/j.nmd.2008.07.004.

Foley, AR; Pitceathly, RD; He, J; Kim, J; Pearson, NM; Muntoni, F; Hanna, MG; (2014) Whole-genome sequencing and the clinician: a tale of two cities. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2013-306264.

Franklin, JP; Cooper-Knock, J; Baheerathan, A; Moll, T; Männikkö, R; Heverin, M; Hardiman, O; ... Hanna, MG; + view all Franklin, JP; Cooper-Knock, J; Baheerathan, A; Moll, T; Männikkö, R; Heverin, M; Hardiman, O; Shaw, PJ; Hanna, MG; - view fewer (2020) Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 10.1080/21678421.2020.1786128. (In press).

Fratta, P; Collins, T; Devoy, A; Fisher, EMC; Nethisinghe, S; Giunti, P; Hanna, MG; ... Sweeney, MG; + view all Fratta, P; Collins, T; Devoy, A; Fisher, EMC; Nethisinghe, S; Giunti, P; Hanna, MG; Pemble, S; Sweeney, MG; - view fewer (2014) Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions. Neurobiology of Aging , 35 (2) 443.e1-443.e3. 10.1016/j.neurobiolaging.2013.07.015.

Fratta, P; Hanna, MG; Fisher, EM; Sidle, K; (2013) An unusual presentation for SOD1-ALS: Isolated facial diplegia. Muscle Nerve , 48 (6) pp. 994-995. 10.1002/mus.23958.

Fratta, P; Malik, B; Gray, A; La Spada, AR; Hanna, MG; Fisher, EM; Greensmith, L; (2013) FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Neurobiology of Aging , 34 (5) 1516.e17 - 1516.e19. 10.1016/j.neurobiolaging.2012.09.008.

Fratta, P; Nirmalananthan, N; Masset, L; Skorupinska, I; Collins, T; Cortese, A; Pemble, S; ... Hanna, MG; + view all Fratta, P; Nirmalananthan, N; Masset, L; Skorupinska, I; Collins, T; Cortese, A; Pemble, S; Malaspina, A; Fisher, EM; Greensmith, L; Hanna, MG; - view fewer (2014) Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology , 82 (23) pp. 2077-2084. 10.1212/WNL.0000000000000507.

Gang, Q; Bettencourt, C; Holton, J; Lovejoy, C; Chelban, V; Oconnor, E; Yuan, Y; ... Houlden, H; + view all Gang, Q; Bettencourt, C; Holton, J; Lovejoy, C; Chelban, V; Oconnor, E; Yuan, Y; Reilly, MM; Hanna, M; Houlden, H; - view fewer (2020) A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres. Journal of Neurology 10.1007/s00415-020-09827-y. (In press).

Gang, Q; Bettencourt, C; Machado, P; Hanna, MG; Houlden, H; (2014) Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. Orphanet J Rare Dis , 9 , Article 88. 10.1186/1750-1172-9-88.

Gang, Q; Bettencourt, C; Machado, PM; Brady, S; Holton, JL; Pittman, AM; Hughes, D; ... Muscle Study Group and The International IBM Genetics Consortium, .; + view all Gang, Q; Bettencourt, C; Machado, PM; Brady, S; Holton, JL; Pittman, AM; Hughes, D; Healy, E; Parton, M; Hilton-Jones, D; Shieh, PB; Needham, M; Liang, C; Zanoteli, E; de Camargo, LV; De Paepe, B; De Bleecker, J; Shaibani, A; Ripolone, M; Violano, R; Moggio, M; Barohn, RJ; Dimachkie, MM; Mora, M; Mantegazza, R; Zanotti, S; Singleton, AB; Hanna, MG; Houlden, H; Muscle Study Group and The International IBM Genetics Consortium, .; - view fewer (2016) Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiology of Aging , 47 218.e1-218.e9. 10.1016/j.neurobiolaging.2016.07.024.

Gang, Q; Bettencourt, C; Machado, PM; Fox, Z; Brady, S; Healy, E; Parton, M; ... Muscle Study Group and the International IBM Genetics Consortium(#), ,; + view all Gang, Q; Bettencourt, C; Machado, PM; Fox, Z; Brady, S; Healy, E; Parton, M; Holton, JL; Hilton-Jones, D; Shieh, PB; Zanoteli, E; De Paepe, B; De Bleecker, J; Shaibani, A; Ripolone, M; Violano, R; Moggio, M; Barohn, RJ; Dimachkie, MM; Mora, M; Mantegazza, R; Zanotti, S; Hanna, MG; Houlden, H; Muscle Study Group and the International IBM Genetics Consortium(#), ,; - view fewer (2015) The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiol Aging , 36 (4) 1766.e1 - 1766.e3. 10.1016/j.neurobiolaging.2014.12.039.

Gardiner, AR; Jaffer, F; Dale, RC; Labrum, R; Erro, R; Meyer, E; Xiromerisiou, G; ... Houlden, H; + view all Gardiner, AR; Jaffer, F; Dale, RC; Labrum, R; Erro, R; Meyer, E; Xiromerisiou, G; Stamelou, M; Walker, M; Kullmann, D; Warner, T; Jarman, P; Hanna, M; Kurian, MA; Bhatia, KP; Houlden, H; - view fewer (2015) The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain , 138 (Pt 12) pp. 3567-3580. 10.1093/brain/awv310.

Garrard, P; Blake, J; Stinton, V; Hanna, MG; Reilly, MM; Holton, JL; Landon, DN; Garrard, P; Blake, J; Stinton, V; Hanna, MG; Reilly, MM; Holton, JL; Landon, DN; Honan, WP; - view fewer (2002) Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA? J NEUROL NEUROSUR PS , 73 (2) 207 - 208.

Ghosh, SG; Becker, K; Huang, H; Dixon-Salazar, T; Chai, G; Salpietro, V; Al-Gazali, L; ... Gleeson, JG; + view all Ghosh, SG; Becker, K; Huang, H; Dixon-Salazar, T; Chai, G; Salpietro, V; Al-Gazali, L; Waisfisz, Q; Wang, H; Vaux, KK; Stanley, V; Manole, A; Akpulat, U; Weiss, MM; Efthymiou, S; Hanna, MG; Minetti, C; Striano, P; Pisciotta, L; De Grandis, E; Altmueller, J; Nuernberg, P; Thiele, H; Yis, U; Okur, TD; Polat, AI; Amiri, N; Doosti, M; Karimani, EG; Toosi, MB; Haddad, G; Karakaya, M; Wirth, B; van Hagen, JM; Wolf, NI; Maroofian, R; Houlden, H; Cirak, S; Gleeson, JG; - view fewer (2018) Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics , 103 (5) pp. 431-439. 10.1016/j.ajhg.2018.07.010.

Gilbert, JR; Symmonds, M; Hanna, MG; Dolan, RJ; Friston, KJ; Moran, RJ; (2016) Profiling neuronal ion channelopathies with non-invasive brain imaging and dynamic causal models: Case studies of single gene mutations. Neuroimage , 124 (A) pp. 43-53. 10.1016/j.neuroimage.2015.08.057.

Gonorazky, HD; Marshall, CR; Al-Murshed, M; Hazrati, L-N; Thor, MG; Hanna, MG; Mannikko, R; ... Yoon, G; + view all Gonorazky, HD; Marshall, CR; Al-Murshed, M; Hazrati, L-N; Thor, MG; Hanna, MG; Mannikko, R; Ray, PN; Yoon, G; - view fewer (2017) Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. Neuromuscular Disorders , 27 (6) pp. 574-580. 10.1016/j.nmd.2017.02.001.

Gray, AL; Annan, L; Dick, JRT; La Spada, AR; Hanna, MG; Greensmith, L; Malik, B; (2020) Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice. Disease Models & Mechanisms 10.1242/dmm.042424. (In press).

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Macken, WL; Lucassen, AM; Hanna, MG; Pitceathly, RDS; (2021) Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications. Nature Reviews Genetics , 22 pp. 547-548. 10.1038/s41576-021-00381-5.

Macken, WL; Vandrovcova, J; Hanna, MG; Pitceathly, RDS; (2021) Applying genomic and transcriptomic advances to mitochondrial medicine. Nature reviews. Neurology , 17 pp. 215-230. 10.1038/s41582-021-00455-2.

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Malik, B; Devine, H; Patani, R; La Spada, AR; Hanna, MG; Greensmith, L; (2019) Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy. Scientific Reports , 9 , Article 3539. 10.1038/s41598-019-40118-3.

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Manole, A; Mannikko, R; Hanna, MG; Kullmann, DM; Houlden, H; (2017) De novo KCNA2 mutations cause hereditary spastic paraplegia. [Letter]. Annals of Neurology , 81 (2) pp. 326-328. 10.1002/ana.24866.

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Matthews, E; Balestrini, S; Sisodiya, SM; Hanna, MG; (2020) Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches. The Lancet Child & Adolescent Health , 4 (7) pp. 536-547. 10.1016/S2352-4642(19)30425-0.

Matthews, E; Hanna, MG; (2017) Dichlorphenamide efficacy in the primary periodic paralyses. Expert Opinion on Orphan Drugs , 5 (3) pp. 285-290. 10.1080/21678707.2017.1283216.

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Salam, Sharfaraz; Dimachkie, Mazen M; Hanna, Michael G; Machado, Pedro M; (2022) Diagnostic and prognostic value of anti-cN1A antibodies in inclusion body myositis. Clinical and Experimental Rheumatology , 40 (2) pp. 384-393.

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Salpietro, V; Malintan, NT; Llano-Rivas, I; Spaeth, CG; Efthymiou, S; Striano, P; Vandrovcova, J; ... Houlden, H; + view all Salpietro, V; Malintan, NT; Llano-Rivas, I; Spaeth, CG; Efthymiou, S; Striano, P; Vandrovcova, J; Cutrupi, MC; Chimenz, R; David, E; Di Rosa, G; Marce-Grau, A; Raspall-Chaure, M; Martin-Hernandez, E; Zara, F; Minetti, C; Deciphering Developmental Disorders Study, .; SYNAPS Study Group, .; Bello, OD; De Zorzi, R; Fortuna, S; Dauber, A; Alkhawaja, M; Sultan, T; Mankad, K; Vitobello, A; Thomas, Q; Mau-Them, FT; Faivre, L; Martinez-Azorin, F; Prada, CE; Macaya, A; Kullmann, DM; Rothman, JE; Krishnakumar, SS; Houlden, H; - view fewer (2019) Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. American Journal of Human Genetics , 104 (4) pp. 721-730. 10.1016/j.ajhg.2019.02.016.

Sampedro Castañeda, M; Zanoteli, E; Scalco, RS; Scaramuzzi, V; Marques Caldas, V; Conti Reed, U; da Silva, AMS; ... Matthews, E; + view all Sampedro Castañeda, M; Zanoteli, E; Scalco, RS; Scaramuzzi, V; Marques Caldas, V; Conti Reed, U; da Silva, AMS; O'Callaghan, B; Phadke, R; Bugiardini, E; Sud, R; McCall, S; Hanna, MG; Poulsen, H; Männikkö, R; Matthews, E; - view fewer (2018) A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. Brain , 141 (12) pp. 3308-3318. 10.1093/brain/awy283.

Sangha, G; Yao, B; Lunn, D; Skorupinska, I; Germain, L; Kozyra, D; Parton, M; ... Machado, PM; + view all Sangha, G; Yao, B; Lunn, D; Skorupinska, I; Germain, L; Kozyra, D; Parton, M; Miller, J; Hanna, MG; Hilton-Jones, D; Freebody, J; Machado, PM; - view fewer (2021) Longitudinal observational study investigating outcome measures for clinical trials in inclusion body myositis. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2020-325141. (In press).

Sansone, VA; Johnson, NE; Hanna, MG; Ciafaloni, E; Statland, JM; Shieh, PB; Cohen, F; Sansone, VA; Johnson, NE; Hanna, MG; Ciafaloni, E; Statland, JM; Shieh, PB; Cohen, F; Griggs, RC; - view fewer (2021) Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis. Muscle & Nerve , 64 (3) pp. 342-346. 10.1002/mus.27354.

Savvatis, K; Vissing, CR; Klouvi, L; Florian, A; Rahman, M; Béhin, A; Fayssoil, A; ... Wahbi, K; + view all Savvatis, K; Vissing, CR; Klouvi, L; Florian, A; Rahman, M; Béhin, A; Fayssoil, A; Masingue, M; Stojkovic, T; Bécane, HM; Berber, N; Mochel, F; Duboc, D; Fontaine, B; Krett, B; Stalens, C; Lejeune, J; Pitceathly, RDS; Lopes, L; Saadi, M; Gossios, T; Procaccio, V; Spinazzi, M; Tard, C; De Groote, P; Dhaenens, CM; Douillard, C; Echaniz-Laguna, A; Quinlivan, R; Hanna, MG; Yilmaz, A; Vissing, J; Laforêt, P; Elliott, P; Wahbi, K; - view fewer (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.

Scalco, RS; Gardiner, AR; Pitceathly, RDS; Hilton-Jones, D; Schapira, AH; Turner, C; Parton, M; ... Quinlivan, R; + view all Scalco, RS; Gardiner, AR; Pitceathly, RDS; Hilton-Jones, D; Schapira, AH; Turner, C; Parton, M; Desikan, M; Barresi, R; Marsh, J; Manzur, AY; Childs, A-M; Feng, L; Murphy, E; Lamont, PJ; Ravenscroft, G; Wallefeld, W; Davis, MR; Laing, NG; Holton, JL; Fialho, D; Bushby, K; Hanna, MG; Phadke, R; Jungbluth, H; Houlden, H; Quinlivan, R; - view fewer (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.

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.

Scalco, RS; Skorupinska, I; Blochet, C; Habib, M; Matthews, E; Morrow, J; Hanna, M; Scalco, RS; Skorupinska, I; Blochet, C; Habib, M; Matthews, E; Morrow, J; Hanna, M; Fialho, D; - view fewer (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.

Schon, KR; Horvath, R; Wei, W; Calabrese, C; Tucci, A; Ibañez, K; Ratnaike, T; ... Genomics England Research Consortium; + view all Schon, KR; Horvath, R; Wei, W; Calabrese, C; Tucci, A; Ibañez, K; Ratnaike, T; Pitceathly, RDS; Bugiardini, E; Quinlivan, R; Hanna, MG; Clement, E; Ashton, E; Sayer, JA; Brennan, P; Josifova, D; Izatt, L; Fratter, C; Nesbitt, V; Barrett, T; McMullen, DJ; Smith, A; Deshpande, C; Smithson, SF; Festenstein, R; Canham, N; Caulfield, M; Houlden, H; Rahman, S; Chinnery, PF; Genomics England Research Consortium; - view fewer (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.

Schuele, R; Timmann, D; Erasmus, CE; Reichbauer, J; Wayand, M; van de Warrenburg, B; Schoels, L; ... Synofzik, M; + view all Schuele, R; Timmann, D; Erasmus, CE; Reichbauer, J; Wayand, M; van de Warrenburg, B; Schoels, L; Wilke, C; Bevot, A; Zuchner, S; Beltran, S; Laurie, S; Matalonga, L; Graessner, H; Synofzik, M; - view fewer (2021) Solving unsolved rare neurological diseases-a Solve-RD viewpoint. European Journal of Human Genetics , 29 (9) pp. 1332-1336. 10.1038/s41431-021-00901-1.

Sinclair, CD; Morrow, JM; Janiczek, RL; Evans, MR; Rawah, E; Shah, S; Hanna, MG; ... Thornton, JS; + view all Sinclair, CD; Morrow, JM; Janiczek, RL; Evans, MR; Rawah, E; Shah, S; Hanna, MG; Reilly, MM; Yousry, TA; Thornton, JS; - view fewer (2016) Stability and sensitivity of water T2 obtained with IDEAL-CPMG in healthy and fat-infiltrated skeletal muscle. NMR in Biomedicine , 29 (12) pp. 1800-1812. 10.1002/nbm.3654.

Sisodiya, SM; Gulcebi, MI; Fortunato, F; Mills, JD; Haynes, E; Bramon, E; Chadwick, P; ... Hanna, MG; + view all Sisodiya, SM; Gulcebi, MI; Fortunato, F; Mills, JD; Haynes, E; Bramon, E; Chadwick, P; Ciccarelli, O; David, AS; De Meyer, K; Fox, NC; Davan Wetton, J; Koltzenburg, M; Kullmann, DM; Kurian, MA; Manji, H; Maslin, MA; Matharu, M; Montgomery, H; Romanello, M; Werring, DJ; Zhang, L; Friston, KJ; Hanna, MG; - view fewer (2024) Climate change and disorders of the nervous system. The Lancet Neurology , 23 (6) pp. 636-648. 10.1016/S1474-4422(24)00087-5.

Spillane, J; Kullmann, DM; Hanna, MG; (2016) Genetic neurological channelopathies: molecular genetics and clinical phenotypes. Journal of Neurology, Neurosurgery and Psychiatry , 87 (1) pp. 37-48. 10.1136/jnnp-2015-311233.

Statland, JM; Fontaine, B; Hanna, MG; Johnson, NE; Kissel, JT; Sansone, VA; Shieh, PB; ... Griggs, RC; + view all Statland, JM; Fontaine, B; Hanna, MG; Johnson, NE; Kissel, JT; Sansone, VA; Shieh, PB; Tawil, RN; Trivedi, J; Cannon, SC; Griggs, RC; - view fewer (2018) Review of the Diagnosis and Treatment of Periodic Paralysis. Muscle and Nerve , 57 (4) pp. 522-530. 10.1002/mus.26009.

Stunnenberg, B; LoRusso, S; Arnold, WD; Barohn, RJ; Cannon, SC; Fontaine, B; Griggs, RC; ... Statland, JM; + view all Stunnenberg, B; LoRusso, S; Arnold, WD; Barohn, RJ; Cannon, SC; Fontaine, B; Griggs, RC; Hanna, MG; Matthews, E; Meola, G; Sansone, VA; Trivedi, JR; van Engelen, B; Vicart, S; Statland, JM; - view fewer (2020) Guidelines on clinical presentation and management of non-dystrophic myotonias. Muscle & Nerve , 62 (4) pp. 430-444. 10.1002/mus.26887.

Suetterlin, K; Matthews, E; Sud, R; McCall, S; Fialho, D; Burge, J; Jayaseelan, D; ... Männikkö, R; + view all Suetterlin, K; Matthews, E; Sud, R; McCall, S; Fialho, D; Burge, J; Jayaseelan, D; Haworth, A; Sweeney, MG; Kullmann, DM; Schorge, S; Hanna, MG; Männikkö, R; - view fewer (2021) Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. Brain 10.1093/brain/awab344. (In press).

Suetterlin, K; Tan, S; Männikkö, R; Phadke, R; Orford, MR; Eaton, S; Sayer, A; ... Hanna, M; + view all Suetterlin, K; Tan, S; Männikkö, R; Phadke, R; Orford, MR; Eaton, S; Sayer, A; Grounds, M; Matthews, E; Greensmith, L; Hanna, M; - view fewer (2021) Ageing Contributes to Phenotype Transition in a Mouse Model of Periodic Paralysis. JCSM Rapid Communications , 4 (2) pp. 245-259.

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Suetterlin, K; Vivekanandam, V; James, N; Sud, R; Holmes, S; Fialho, D; Hanna, M; Suetterlin, K; Vivekanandam, V; James, N; Sud, R; Holmes, S; Fialho, D; Hanna, M; Matthews, E; - view fewer (2019) Annual renal ultrasound may prevent acute presentation with acetazolamide-associated urolithiasis. Neurology: Clinical Practice 10.1212/CPJ.0000000000000761. (In press).

Suetterlin, KJ; Rayan, D; Matthews, E; Hanna, MG; (2020) Mexiletine (NaMuscla) for the treatment of myotonia in non-dystrophic myotonic disorders. Expert Opinion on Orphan Drugs , 8 (2-3) pp. 43-49. 10.1080/21678707.2020.1739519.

Sun, J; Luo, S; Suetterlin, KJ; Song, J; Huang, J; Zhu, W; Xi, J; ... Qiao, K; + view all Sun, J; Luo, S; Suetterlin, KJ; Song, J; Huang, J; Zhu, W; Xi, J; Zhou, L; Lu, J; Lu, J; Zhao, C; Hanna, MG; Männikkö, R; Matthews, E; Qiao, K; - view fewer (2021) Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations. Neuromuscular Disorders , 31 (9) pp. 829-838. 10.1016/j.nmd.2021.03.014.

Tan, SV; Suetterlin, K; Männikkö, R; Matthews, E; Hanna, MG; Bostock, H; (2020) In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis. Clinical Neurophysiology , 131 (4) pp. 816-827. 10.1016/j.clinph.2019.12.414.

Tan, SV; Z'graggen, WJ; Boërio, D; Rayan, DR; Norwood, F; Ruddy, D; Howard, R; ... Bostock, H; + view all Tan, SV; Z'graggen, WJ; Boërio, D; Rayan, DR; Norwood, F; Ruddy, D; Howard, R; Hanna, MG; Bostock, H; - view fewer (2014) Chloride channels in myotonia congenita assessed by velocity recovery cycles. Muscle & Nerve , 49 (6) pp. 845-857. 10.1002/mus.24069.

Tan, SV; Z'Graggen, WJ; Boërio, D; Turner, C; Hanna, MG; Bostock, H; (2016) In vivo assessment of muscle membrane properties in myotonic dystrophy. Muscle & Nerve , 54 (2) pp. 249-257. 10.1002/mus.25025.

Tan, SV; Z'Graggen, WJ; Hanna, MG; Bostock, H; (2017) In vivo assessment of muscle membrane properties in the sodium channel myotonias. Muscle & Nerve , 57 (4) pp. 586-594. 10.1002/mus.25956.

Thor, MG; Vivekanandam, V; Sampedro-Castañeda, M; Tan, SV; Suetterlin, K; Sud, R; Durran, S; ... Männikkö, R; + view all Thor, MG; Vivekanandam, V; Sampedro-Castañeda, M; Tan, SV; Suetterlin, K; Sud, R; Durran, S; Schorge, S; Kullmann, DM; Hanna, MG; Matthews, E; Männikkö, R; - view fewer (2019) Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation. Scientific Reports , 9 , Article 17560. 10.1038/s41598-019-54041-0.

Tomlinson, SE; Rajakulendran, S; Tan, SV; Graves, TD; Bamiou, DE; Labrum, RW; Burke, D; ... Hanna, MG; + view all Tomlinson, SE; Rajakulendran, S; Tan, SV; Graves, TD; Bamiou, DE; Labrum, RW; Burke, D; Sue, CM; Giunti, P; Schorge, S; Kullmann, DM; Hanna, MG; - view fewer (2013) Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. J Neurol Neurosurg Psychiatry , 84 (10) 1107 - 1112. 10.1136/jnnp-2012-304131.

Tomlinson, SE; Tan, SV; Burke, D; Labrum, RW; Haworth, A; Gibbons, VS; Sweeney, MG; ... Hanna, MG; + view all Tomlinson, SE; Tan, SV; Burke, D; Labrum, RW; Haworth, A; Gibbons, VS; Sweeney, MG; Griggs, RC; Kullmann, DM; Bostock, H; Hanna, MG; - view fewer (2016) In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. Brain , 139 (Pt 2) pp. 380-391. 10.1093/brain/awv380.

Türkdoğan, D; Matthews, E; Usluer, S; Gündoğdu, A; Uluç, K; Mannikko, R; Hanna, MG; ... Çağlayan, SH; + view all Türkdoğan, D; Matthews, E; Usluer, S; Gündoğdu, A; Uluç, K; Mannikko, R; Hanna, MG; Sisodiya, SM; Çağlayan, SH; - view fewer (2019) Possible role of SCN4A skeletal muscle mutation in apnoea during seizure. Epilepsia Open 10.1002/epi4.12347. (In press).

Van den Ameele, J; Fuge, J; Pitceathly, RDS; Berry, S; McIntyre, Z; Hanna, MG; Lee, M; Van den Ameele, J; Fuge, J; Pitceathly, RDS; Berry, S; McIntyre, Z; Hanna, MG; Lee, M; Chinnery, PF; - view fewer (2020) Chronic pain is common in mitochondrial disease. Neuromuscular Disorders 10.1016/j.nmd.2020.02.017. (In press).

Vishnu, Venugopalan Y; Lemmers, Richard JLF; Reyaz, Alisha; Mishra, Rinkle; Ahmad, Tanveer; van der Vliet, Patrick J; Kretkiewicz, Marcelina M; ... Srivastava, MV Padma; + view all Vishnu, Venugopalan Y; Lemmers, Richard JLF; Reyaz, Alisha; Mishra, Rinkle; Ahmad, Tanveer; van der Vliet, Patrick J; Kretkiewicz, Marcelina M; Macken, William L; Efthymiou, Stephanie; Dominik, Natalia; Morrow, Jasper M; Bhatia, Rohit; Wilson, Lindsay A; Houlden, Henry; Hanna, Michael G; Bugiardini, Enrico; van der Maarel, Silvere M; Srivastava, MV Padma; - view fewer (2024) The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India. european journal of human genetics 10.1038/s41431-024-01577-z. (In press).

Vivekanandam, Vinojini; Jaibaji, Rawan; Sud, Richa; Ellmers, Rebecca; Skorupinska, Iwona; Germaine, Louise; James, Natalie; ... Hanna, Michael G; + view all Vivekanandam, Vinojini; Jaibaji, Rawan; Sud, Richa; Ellmers, Rebecca; Skorupinska, Iwona; Germaine, Louise; James, Natalie; Holmes, Sarah; Mannikko, Roope; Jayaseelan, Dipa; Hanna, Michael G; - view fewer (2023) Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing. Neuromuscular Disorders , 33 (3) pp. 270-273. 10.1016/j.nmd.2023.01.007.

Vivekanandam, V; Bugiardini, E; Merve, A; Parton, M; Morrow, JM; Hanna, MG; Machado, PM; (2020) Differential Diagnoses of Inclusion Body Myositis. Neurologic Clinics , 38 (3) pp. 697-710. 10.1016/j.ncl.2020.03.014.

Vivekanandam, V; Mannikko, R; Matthews, E; Hanna, MG; (2020) Improving genetic diagnostics of skeletal muscle channelopathies. Expert Review of Molecular Diagnostics , 20 (7) pp. 725-736. 10.1080/14737159.2020.1782195.

Vivekanandam, V; Munot, P; Hanna, M; Matthews, E; (2020) Skeletal Muscle Channelopathies. Neurologic Clinics , 38 (3) pp. 481-491. 10.1016/j.ncl.2020.04.003.

Wallace, A; Pietrusz, A; Dewar, E; Dudziec, M; Jones, K; Hennis, P; Sterr, A; ... Ramdharry, GM; + view all Wallace, A; Pietrusz, A; Dewar, E; Dudziec, M; Jones, K; Hennis, P; Sterr, A; Baio, G; Machado, PM; Laurá, M; Skorupinska, I; Skorupinska, M; Butcher, K; Trenell, M; Reilly, MM; Hanna, MG; Ramdharry, GM; - view fewer (2019) Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity. Neurology 10.1212/WNL.0000000000007265. (In press).

Weihl, CC; Udd, B; Hanna, M; ENMC workshop study group, .; (2018) 234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017. Neuromuscular Disorders , 28 (12) pp. 1022-1030. 10.1016/j.nmd.2018.09.004.

Wijngaard, R; Demidov, G; O’Gorman, L; Corominas-Galbany, J; Yaldiz, B; Steyaert, W; de Boer, E; ... Gilissen, C; + view all Wijngaard, R; Demidov, G; O’Gorman, L; Corominas-Galbany, J; Yaldiz, B; Steyaert, W; de Boer, E; Vissers, LELM; Kamsteeg, EJ; Pfundt, R; Swinkels, H; den Ouden, A; te Paske, IBAW; de Voer, RM; Faivre, L; Denommé-Pichon, AS; Duffourd, Y; Vitobello, A; Chevarin, M; Straub, V; Töpf, A; van der Kooi, AJ; Magrinelli, F; Rocca, C; Hanna, MG; Vandrovcova, J; Ossowski, S; Laurie, S; Gilissen, C; - view fewer (2023) Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (European Journal of Human Genetics, (2023), 10.1038/s41431-023-01478-7). European Journal of Human Genetics 10.1038/s41431-023-01492-9.

Willis, TA; Hollingsworth, KG; Coombs, A; Sveen, ML; Andersen, S; Stojkovic, T; Eagle, M; ... Straub, V; + view all Willis, TA; Hollingsworth, KG; Coombs, A; Sveen, ML; Andersen, S; Stojkovic, T; Eagle, M; Mayhew, A; de Sousa, PL; Dewar, L; Morrow, JM; Sinclair, CD; Thornton, JS; Bushby, K; Lochmüller, H; Hanna, MG; Hogrel, JY; Carlier, PG; Vissing, J; Straub, V; - view fewer (2013) Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study. PLoS One , 8 (8) , Article e70993. 10.1371/journal.pone.0070993.

Zollo, M; Ahmed, M; Ferrucci, V; Salpietro, V; Asadzadeh, F; Carotenuto, M; Maroofian, R; ... Baple, EL; + view all Zollo, M; Ahmed, M; Ferrucci, V; Salpietro, V; Asadzadeh, F; Carotenuto, M; Maroofian, R; Al-Amri, A; Singh, R; Scognamiglio, I; Mojarrad, M; Musella, L; Duilio, A; Di Somma, A; Karaca, E; Rajab, A; Al-Khayat, A; Mohapatra, TM; Eslahi, A; Ashrafzadeh, F; Rawlins, LE; Prasad, R; Gupta, R; Kumari, P; Srivastava, M; Cozzolino, F; Rai, SK; Monti, M; Harlalka, GV; Simpson, MA; Rich, P; Al-Salmi, F; Patton, MA; Chioza, BA; Efthymiou, S; Granata, F; Di Rosa, G; Wiethoff, S; Borgione, E; Scuderi, C; Mankad, K; Hanna, MG; Pucci, P; Houlden, H; Lupski, JR; Crosby, AH; Baple, EL; - view fewer (2017) PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. BRAIN , 140 (4) pp. 940-952. 10.1093/brain/awx014.

Zurek, B; Ellwanger, K; Vissers, LELM; Schuele, R; Synofzik, M; Topf, A; de Voer, RM; ... Graessner, H; + view all Zurek, B; Ellwanger, K; Vissers, LELM; Schuele, R; Synofzik, M; Topf, A; de Voer, RM; Laurie, S; Matalonga, L; Gilissen, C; Ossowski, S; 't Hoen, PAC; Vitobello, A; Schulze-Hentrich, JM; Riess, O; Brunner, HG; Brookes, AJ; Rath, A; Bonne, G; Gumus, G; Verloes, A; Hoogerbrugge, N; Evangelista, T; Harmuth, T; Swertz, M; Spalding, D; Hoischen, A; Beltran, S; Graessner, H; - view fewer (2021) Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European Journal of Human Genetics , 29 pp. 1325-1331. 10.1038/s41431-021-00859-0.

Report

Korkodilos, M; Hajioff, S; Gardner, C; Overett, S; Ibrahim, S; Jaffer, F; Hanna, MG; (2012) Audit of unplanned admissions in neuromuscular patients: a collaborative audit. Audit, Information and Analysis Unit / London Specialised Commissioning Group / MRC Centre for Neuromuscular Diseases: United Kingdom.

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.

Conference item

Postges, H; Jones, F; Lee, L; Holmes, S; James, N; Hanna, M; Reilly, M; Postges, H; Jones, F; Lee, L; Holmes, S; James, N; Hanna, M; Reilly, M; Ramdharry, G; - view fewer (2020) Neuro-muscular Bridges: Outcome of the development phase of a self-management programme for people with neuromuscular diseases. Presented at: Virtual Conference of Peripheral-Nerve-Society, ELECTR NETWORK.

Scalco, RS; Morrow, J; Manole, A; Skorupinska, I; Bellin, A; Ricciardi, F; Matthews, E; ... Fialho, D; + view all Scalco, RS; Morrow, J; Manole, A; Skorupinska, I; Bellin, A; Ricciardi, F; Matthews, E; Hanna, M; Fialho, D; - view fewer (2018) RCT of Bumetanide in Hypokalaemic Periodic Paralysis (HypoPP) using abductor digiti minimi compound muscle action potential (CMAP) as an objective outcome measure. Presented at: 11th Annual UK Neuromuscular Translational Research Conference, Cambridge.

Scalco, RS; Morrow, J; Skorupinska, I; Manole, AA; Bellin, A; Ricciardi, F; Matthews, E; ... Fialho, D; + view all Scalco, RS; Morrow, J; Skorupinska, I; Manole, AA; Bellin, A; Ricciardi, F; Matthews, E; Hanna, M; Fialho, D; - view fewer (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.

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.

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.

Thesis

Amior, N; (2018) Developing models to study the mechanisms of weakness and myotonia in Periodic Paralysis. Doctoral thesis (Ph.D), UCL (University College London).

Durran, SCM; (2016) Genetic and molecular studies of skeletal muscle channelopathies. Doctoral thesis , UCL (University College London).

Gang, Q; (2016) Genetic Investigations of Sporadic Inclusion Body Myositis and Myopathies with Structural Abnormalities and Protein Aggregates in Muscle. Doctoral thesis , UCL (University College London).

Gardiner, AR; (2016) A genetic investigation of the muscle and neuronal channelopathies: from Sanger to next-generation sequencing. Doctoral thesis , UCL (University College London).

Morrow, JM; (2017) Development of quantitative MRI as an outcome measure in Charcot-Marie-Tooth disease and inclusion body myositis. Doctoral thesis , UCL (University College London).

Raja Rayan, DL; (2016) A clinical and genetic study of the skeletal muscle channelopathies. Doctoral thesis , UCL (University College London).

Spicer, Charlotte Jayne; (2018) Investigating the effects of pharmacological upregulation of the heat shock response in models of inclusion body myositis. Doctoral thesis (Ph.D), UCL (University College London).

This list was generated on Sat Jan 3 23:48:44 2026 GMT.