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Akcimen, F; Vural, A; Durmus, H; Cakar, A; Houlden, H; Parman, YG; Basak, AN; (2019) A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID. Journal of Human Genetics , 64 pp. 1141-1144. 10.1038/s10038-019-0652-y.

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Gayathri, S; Gowda, VK; Udhayabanu, T; O'Callaghan, B; Efthymiou, S; Varalakshmi, P; Benakappa, N; ... Ashokkumar, B; + view all Gayathri, S; Gowda, VK; Udhayabanu, T; O'Callaghan, B; Efthymiou, S; Varalakshmi, P; Benakappa, N; Houlden, H; Ashokkumar, B; - view fewer (2021) Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance. European Journal of Neurology , 28 (3) pp. 945-954. 10.1111/ene.14682.

Genis, David; Alemany, Berta; Pellerin, David; Brais, Bernard; Dicaire, Marie-Josee; Volpini, Victor; Campos, Berta; ... Torrenta, Lluis; + view all Genis, David; Alemany, Berta; Pellerin, David; Brais, Bernard; Dicaire, Marie-Josee; Volpini, Victor; Campos, Berta; Corral, Jordi; Gardenyes, Josep; de Jorge, Laura; San Nicolas, Hector; Buxo, Maria; Sancho, Joan Martinez; Obon, Maria; Roig, Carles; Rodriguez-Revenga, Laia; Alvarez-Mora, Maria Isabel; Danzi, Matt C; Houlden, Henry; Zuchner, Stephan; Marquez, Fabian; Torrenta, Lluis; - view fewer (2025) Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients. Journal of Neurology , 272 (3) , Article 235. 10.1007/s00415-025-12964-x.

George, H; Ule, J; Hussain, S; (2017) Illustrating the Epitranscriptome at Nucleotide Resolution Using Methylation-iCLIP (miCLIP). Methods in Molecular Biology , 1562 pp. 91-106. 10.1007/978-1-4939-6807-7_7.

Georgiev, D; Hamberg, K; Hariz, M; Forsgren, L; Hariz, G-M; (2017) Gender differences in Parkinson's disease: A clinical perspective. Acta Neurologica Scandinavica , 136 (6) pp. 570-584. 10.1111/ane.12796.

German, Hannah M; Zaki, Maha S; Usmani, Muhammad A; Karagoz, Irem; Efthymiou, Stephanie; Abdel-Hamid, Mohamed S; Arabiyat, Haya Abdelhafez; ... Maroofian, Reza; + view all German, Hannah M; Zaki, Maha S; Usmani, Muhammad A; Karagoz, Irem; Efthymiou, Stephanie; Abdel-Hamid, Mohamed S; Arabiyat, Haya Abdelhafez; Ghaffar, Amama; Shahzad, Mohsin; Van Bokhoven, Hans; Ahmed, Zubair M; Yaghini, Omid; Hosseini, Neda; Majidinezhad, Maede; Alavi, Shahryar; Bosma, Marjolein; Broeks, Melissa H; Türdoğan, Dilşad; Suri, Mohnish; Laura de Godoy, Laiz; Verhoeven-Duif, Nanda M; Riazuddin, Sheikh; Gleeson, Joseph G; Alves, Cesar; Jans, Judith JM; Riazuddin, Saima; Houlden, Henry; Maroofian, Reza; - view fewer (2025) Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements. Genetics in Medicine , Article 101587. 10.1016/j.gim.2025.101587. (In press).

Gerstmann, Katrin; Jurčić, Nina; Blasco, Edith; Kunz, Severine; de Almeida Sassi, Felipe; Wanaverbecq, Nicolas; Zampieri, Niccolò; (2022) The role of intraspinal sensory neurons in the control of quadrupedal locomotion. Current Biology , 32 (11) 2442-2453.e4. 10.1016/j.cub.2022.04.019.

Ghosh, Saikat; Singh, Jaskaran; Damseh, Nadirah S; Severino, Mariasavina; De Pace, Raffaella; Golding, Adriana E; Jarnik, Michal; ... Bonifacino, Juan S; + view all Ghosh, Saikat; Singh, Jaskaran; Damseh, Nadirah S; Severino, Mariasavina; De Pace, Raffaella; Golding, Adriana E; Jarnik, Michal; Thakran, Poonam; Faivre, Laurence; Heitz, Jade; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; AlAbdi, Lama; Abdulwahab, Firdous; Sumayli, Safia; Alqahtani, Mashael; Cheema, Huma Arshad; Javed, Iram; Kim, JiHye; Lochmuller, Hanns; Mor-Shaked, Hagar; Neil, Jennifer E; Mochida, Ganeshwaran H; Zifarelli, Giovanni; Bauer, Peter; Barkhordari, Ehsan; Ghayoor Karimiani, Ehsan; Houlden, Henry; Abu-Libdeh, Bassam; Edvardson, Shimon; Elpeleg, Orly; Maroofian, Reza; Patten, Shunmoogum A; Bonifacino, Juan S; - view fewer (2025) EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects. Brain 10.1093/brain/awaf371. (In press).

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.

Giagkou, N; Bhatia, KP; Höglinger, GU; Stamelou, M; (2019) Chapter Thirteen - Genetic mimics of the non-genetic atypical parkinsonian disorders – the ‘atypical’ atypical. International Review of Neurobiology , 149 pp. 327-351. 10.1016/bs.irn.2019.10.008.

Gianfrancesco, MA; Leykina, LA; Izadi, Z; Taylor, T; Sparks, JA; Harrison, C; Trupin, L; ... COVID-19 Global Rheumatology Alliance; + view all Gianfrancesco, MA; Leykina, LA; Izadi, Z; Taylor, T; Sparks, JA; Harrison, C; Trupin, L; Rush, S; Schmajuk, G; Katz, P; Jacobsohn, L; Hsu, TY; D'Silva, KM; Serling-Boyd, N; Wallwork, R; Todd, DJ; Bhana, S; Costello, W; Grainger, R; Hausmann, JS; Liew, JW; Sirotich, E; Sufka, P; Wallace, ZS; Machado, PM; Robinson, PC; Yazdany, J; COVID-19 Global Rheumatology Alliance; - view fewer (2021) Association of Race and Ethnicity With COVID‐19 Outcomes in Rheumatic Disease: Data From the COVID‐19 Global Rheumatology Alliance Physician Registry. Arthritis & Rheumatology , 73 (3) pp. 374-380. 10.1002/art.41567.

Gianfrancesco, M; Hyrich, KL; Al-Adely, S; Carmona, L; Danila, MI; Gossec, L; Izadi, Z; ... COVID-19 Global Rheumatology Alliance; + view all Gianfrancesco, M; Hyrich, KL; Al-Adely, S; Carmona, L; Danila, MI; Gossec, L; Izadi, Z; Jacobsohn, L; Katz, P; Lawson-Tovey, S; Mateus, EF; Rush, S; Schmajuk, G; Simard, J; Strangfeld, A; Trupin, L; Wysham, KD; Bhana, S; Costello, W; Grainger, R; Hausmann, JS; Liew, JW; Sirotich, E; Sufka, P; Wallace, ZS; Yazdany, J; Machado, PM; Robinson, PC; COVID-19 Global Rheumatology Alliance; - view fewer (2020) Characteristics associated with hospitalisation for COVID-19 in people with rheumatic disease: data from the COVID-19 Global Rheumatology Alliance physician-reported registry. Annals of the Rheumatic Diseases , 79 (7) pp. 859-866. 10.1136/annrheumdis-2020-217871.

Gianfrancesco, MA; Hyrich, KL; Gossec, L; Strangfeld, A; Carmona, L; Mateus, EF; Sufka, P; ... COVID-19 Global Rheumatology Alliance Steering Committee; + view all Gianfrancesco, MA; Hyrich, KL; Gossec, L; Strangfeld, A; Carmona, L; Mateus, EF; Sufka, P; Grainger, R; Wallace, Z; Bhana, S; Sirotich, E; Liew, J; Hausmann, JS; Costello, W; Robinson, P; Machado, PM; Yazdany, J; COVID-19 Global Rheumatology Alliance Steering Committee; - view fewer (2020) Rheumatic disease and COVID-19: initial data from the COVID-19 Global Rheumatology Alliance provider registries. The Lancet Rheumatology , 2 (5) e250-e253. 10.1016/S2665-9913(20)30095-3.

Gibbs, KL; Greensmith, L; Schiavo, G; (2015) Regulation of Axonal Transport by Protein Kinases. Trends in Biochemical Sciences , 40 (10) pp. 597-610. 10.1016/j.tibs.2015.08.003.

Gibbs, KL; Kalmar, B; Rhymes, ER; Fellows, AD; Ahmed, M; Whiting, P; Davies, CH; ... Schiavo, G; + view all Gibbs, KL; Kalmar, B; Rhymes, ER; Fellows, AD; Ahmed, M; Whiting, P; Davies, CH; Greensmith, L; Schiavo, G; - view fewer (2018) Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALS. Cell Death and Disease , 9 , Article 596. 10.1038/s41419-018-0624-8.

Gibbs, KL; Kalmar, B; Sleigh, JN; Greensmith, L; Schiavo, G; (2016) In vivo imaging of axonal transport in murine motor and sensory neurons. Journal of Neuroscience Methods , 257 pp. 26-33. 10.1016/j.jneumeth.2015.09.018.

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.

Gilley, J; Jackson, O; Pipis, M; Estiar, MA; Al-Chalabi, A; Danzi, MC; van Eijk, KR; ... Coleman, MP; + view all Gilley, J; Jackson, O; Pipis, M; Estiar, MA; Al-Chalabi, A; Danzi, MC; van Eijk, KR; Goutman, SA; Harms, MB; Houlden, H; Iacoangeli, A; Kaye, J; Lima, L; Ravits, J; Rouleau, GA; Schüle, R; Xu, J; Züchner, S; Cooper-Knock, J; Gan-Or, Z; Reilly, MM; Coleman, MP; - view fewer (2021) Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. eLife , 10 10.7554/eLife.70905. (In press).

Glasbey, JC; Bhangu, A; COVIDSurg Collaborative, .; (2021) Elective Cancer Surgery in COVID-19-Free Surgical Pathways During the SARS-CoV-2 Pandemic: An International, Multicenter, Comparative Cohort Study. Journal of Clinical Oncology , 39 (1) pp. 66-78. 10.1200/JCO.20.01933.

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Khani, M; Taheri, H; Shamshiri, H; Houlden, H; Efthymiou, S; Alavi, A; Nafissi, S; Khani, M; Taheri, H; Shamshiri, H; Houlden, H; Efthymiou, S; Alavi, A; Nafissi, S; Elahi, E; - view fewer (2019) Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation. American Journal of Medical Genetics, Part A , 179 (8) pp. 1507-1515. 10.1002/ajmg.a.61184.

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Kieran, D.; Hafezparast, M.; Bohnert, S.; Dick, J.R.T.; Martin, J.; Schiavo, G.; Fisher, E.M.C.; Kieran, D.; Hafezparast, M.; Bohnert, S.; Dick, J.R.T.; Martin, J.; Schiavo, G.; Fisher, E.M.C.; Greensmith, L.; - view fewer (2005) A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice. The Journal of Cell Biology , 169 (4) pp. 561-567. 10.1083/jcb.200501085.

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Kim, Yee-Seul; Kriegel, Sebastien; Bessmertnykh-Lemeune, Alla; Harris, Kenneth D; Limoges, Benoit; Balland, Veronique; (2021) Interplay Between Charge Accumulation and Oxygen Reduction Catalysis in Nanostructured TiO2 Electrodes Functionalized with a Molecular Catalyst. ChemElectroChem , 8 (14) pp. 2640-2648. 10.1002/celc.202100424.

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Kleerekooper, I; Leo, S; Davagnanam, I; Del Porto, L; Guajardo, JM; Dell'Arti, L; Robson, A; ... Petzold, A; + view all Kleerekooper, I; Leo, S; Davagnanam, I; Del Porto, L; Guajardo, JM; Dell'Arti, L; Robson, A; Trip, SA; Holder, G; Plant, G; Petzold, A; - view fewer (2020) A prognostically relevant functional-structural relationship in acute optic neuritis. Presented at: 8th Joint ACTRIMS-ECTRIMS Meeting (MSVirtual), ELECTR NETWORK.

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Machado, PM; Lawson-Tovey, S; Strangfeld, A; Mateus, EF; Hyrich, KL; Gossec, L; Carmona, L; ... Mariette, X; + view all Machado, PM; Lawson-Tovey, S; Strangfeld, A; Mateus, EF; Hyrich, KL; Gossec, L; Carmona, L; Rodrigues, A; Raffeiner, B; Duarte, C; Hachulla, E; Veillard, E; Strakova, E; Burmester, GR; Yardımcı, GK; Gomez-Puerta, JA; Zepa, J; Kearsley-Fleet, L; Trefond, L; Cunha, M; Mosca, M; Cornalba, M; Soubrier, M; Roux, N; Brocq, O; Durez, P; Conway, R; Goulenok, T; Bijlsma, JW; McInnes, IB; Mariette, X; - view fewer (2021) Safety of vaccination against SARS-CoV-2 in people with rheumatic and musculoskeletal diseases: results from the EULAR Coronavirus Vaccine (COVAX) physician-reported registry. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2021-221490. (In press).

Machado, P; Brady, S; Hanna, MG; (2013) Update in inclusion body myositis. Curr Opin Rheumatol , 25 (6) 763 - 771. 10.1097/01.bor.0000434671.77891.9a.

Machado, P; Cerqueira, M; Ávila-Ribeiro, P; Aguiar, R; Bernardo, A; Sepriano, A; Águeda, A; ... Vieira-Sousa, E; + view all Machado, P; Cerqueira, M; Ávila-Ribeiro, P; Aguiar, R; Bernardo, A; Sepriano, A; Águeda, A; Cordeiro, A; Raposo, A; Rodrigues, AM; Barcelos, A; Malcata, A; Lopes, C; Vaz, CC; Nour, D; Godinho, F; Alvarenga, F; Pimentel-Santos, F; Canhão, H; Santos, H; Cunha, I; Neves, JS; Fonseca, JE; Gomes, JL; Tavares-Costa, J; Costa, L; Cunha-Miranda, L; Maurício, L; Cruz, M; Afonso, MC; Santos, MJ; Bernardes, M; Valente, P; Figueira, R; Pimenta, S; Ramiro, S; Pedrosa, T; Costa, TA; Vieira-Sousa, E; - view fewer (2017) Portuguese recommendations for the use of biological therapies in patients with axial spondyloarthritis - 2016 update. Acta Reumatológica Portuguesa , 42 (3) pp. 209-218.

Machado, P; Deodhar, A; (2019) Treat-to-target in axial spondyloarthritis: gold standard or fools' gold? Current Opinion in Rheumatology , 31 (4) pp. 344-348. 10.1097/BOR.0000000000000625.

Machado, P; Santos, MJ; Fonseca, JE; (2018) Recommendations made by the Portuguese Society of Rheumatology: a contribution for a high-quality clinical practice. Acta Reumatologica Portuguesa , 2018 (1) pp. 19-20.

Machado, PM; (2020) Inhibition of interleukin-17 in axial spondyloarthritis spectrum. The Lancet , 395 (10217) pp. 6-8. 10.1016/S0140-6736(19)33047-8.

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Machado, PM; Cerqueira, M; Ávila-Ribeiro, P; Aguiar, R; Bernardo, A; Sepriano, A; Águeda, A; ... Vieira-Sousa, E; + view all Machado, PM; Cerqueira, M; Ávila-Ribeiro, P; Aguiar, R; Bernardo, A; Sepriano, A; Águeda, A; Cordeiro, A; Raposo, A; Rodrigues, AM; Barcelos, A; Malcata, A; Lopes, C; Vaz, CC; Nour, D; Godinho, F; Alvarenga, F; Pimentel-Santos, F; Canhão, H; Santos, H; Cunha, I; Neves, JS; Fonseca, JE; Gomes, JL; Tavares-Costa, J; Costa, L; Cunha-Miranda, L; Maurício, L; Cruz, M; Afonso, MC; Santos, MJ; Bernardes, M; Valente, P; Figueira, R; Pimenta, S; Ramiro, S; Pedrosa, T; Costa, TA; Vieira-Sousa, E; - view fewer (2018) Portuguese recommendations for the use of biological therapies in patients with axial spondyloarthritis - 2016 update. Acta Reumatologica Portuguesa , 43 (S1) pp. 52-61.

Machado, PM; Landewé, R; Heijde, DVD; Assessment of SpondyloArthritis international Society (ASAS); (2018) Ankylosing Spondylitis Disease Activity Score (ASDAS): 2018 update of the nomenclature for disease activity states. Annals of the Rheumatic Diseases , 77 (10) pp. 1539-1540. 10.1136/annrheumdis-2018-213184.

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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.

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Magen, I; Yacovzada, NS; Yanowski, E; Coenen-Stass, A; Grosskreutz, J; Lu, C-H; Greensmith, L; ... Hornstein, E; + view all Magen, I; Yacovzada, NS; Yanowski, E; Coenen-Stass, A; Grosskreutz, J; Lu, C-H; Greensmith, L; Malaspina, A; Fratta, P; Hornstein, E; - view fewer (2021) Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosis. Nature Neuroscience , 24 (11) pp. 1534-1541. 10.1038/s41593-021-00936-z.

Maggi, L; Matthews, E; Desaphy, J-F; (2020) Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field. Frontiers in Neurology , 11 , Article 626772. 10.3389/fneur.2020.626772.

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Magnollay, L; De Angelis, F; Wottschel, V; Toosy, A; Tur, C; Yiannakas, M; Cortese, R; ... Ciccarelli, O; + view all Magnollay, L; De Angelis, F; Wottschel, V; Toosy, A; Tur, C; Yiannakas, M; Cortese, R; Miller, DH; Ciccarelli, O; - view fewer (2015) Can optic nerve MTR and OCT distinguish between multiple sclerosis and neuromyelitis optica? Multiple Sclerosis Journal , 21 (S11) pp. 346-347. 10.1177/1352458515602642.

Magown, P; Brownstone, RM; (2017) A Canadian Winter Indirectly Inactivates a Deep Brain Stimulation System. The Canadian Journal of Neurological Sciences , 44 (3) pp. 332-333. 10.1017/cjn.2016.421.

Magown, P; Rafuse, VF; Brownstone, RM; (2017) Microcircuit formation following transplantation of mouse embryonic stem cell-derived neurons into peripheral nerve. Journal of Neurophysiology , 117 (4) pp. 1683-1689. 10.1152/jn.00943.2016.

Magrinelli, F; Cali, E; Braga, VL; Yis, U; Tomoum, H; Shamseldin, H; Raiman, J; ... Maroofian, R; + view all Magrinelli, F; Cali, E; Braga, VL; Yis, U; Tomoum, H; Shamseldin, H; Raiman, J; Kernstock, C; Rezende Filho, FM; Povoas Barsottini, OG; Taylor, RW; Ostergaard, E; Tamim, A; Schaeferhoff, K; Ferraz Sallum, JM; Zaki, MS; Kok, F; Bhatia, KP; Wissinger, B; Sergeant, K; Haack, TB; Horvath, R; Hiz, S; Alkuraya, FS; Houlden, H; Pedroso, JL; Maroofian, R; - view fewer (2022) Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. Movement Disorders Clinical Practice 10.1002/mdc3.13398. (In press).

Magrinelli, F; Mehta, S; Di Lazzaro, G; Latorre, A; Edwards, MJ; Balint, B; Basu, P; ... Bhatia, KP; + view all Magrinelli, F; Mehta, S; Di Lazzaro, G; Latorre, A; Edwards, MJ; Balint, B; Basu, P; Kobylecki, C; Groppa, S; Hegde, A; Mulroy, E; Estevez-Fraga, C; Arora, A; Kumar, H; Schneider, SA; Lewis, PA; Jaunmuktane, Z; Revesz, T; Gandhi, S; Wood, NW; Hardy, JA; Tinazzi, M; Lal, V; Houlden, H; Bhatia, KP; - view fewer (2021) Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism. Movement Disorders 10.1002/mds.28807. (In press).

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Magrinelli, F; Latorre, A; Balint, B; Mackenzie, M; Mulroy, E; Stamelou, M; Tinazzi, M; Magrinelli, F; Latorre, A; Balint, B; Mackenzie, M; Mulroy, E; Stamelou, M; Tinazzi, M; Bhatia, KP; - view fewer (2020) Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria. Parkinsonism & Related Disorders , 77 pp. 121-140. 10.1016/j.parkreldis.2020.04.010.

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