| Nishide M, Le Marquand K, Davis MR, Halmágyi GM, Fellner A, Narayanan RK, Kennerson ML, Reddel SW, Worgan L, Panegyres PK, Kumar KR. Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34. Cerebellum. 2024 Feb;23(1):268-277. doi: 10.1007/s12311-023-01522-8. Epub 2023 Jan 25. |
| Rudaks LI, Yeow D, Kumar KR. Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia. Parkinsonism Relat Disord. 2024 Feb;119:105969. doi: 10.1016/j.parkreldis.2023.105969. Epub 2023 Dec 21. |
| Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. |
| Pervin I, Ramanathan S, Cappelen-Smith C, Vucic S, Reddel SW, Hardy TA. Clinical and radiological characteristics and outcomes of patients with recurrent or relapsing tumefactive demyelination. Mult Scler Relat Disord. 2024 Feb;82:105408. doi: 10.1016/j.msard.2023.105408. Epub 2024 Jan 5. |
| Hardy TA, Aouad P, Barnett MH, Blum S, Broadley S, Carroll WM, Crimmins D, Griffiths D, Hodgkinson S, Lechner-Scott J, Lee A, Malhotra R, McCombe P, Parratt J, Plummer C, Van der Walt A, Martel K, Walker RA. Onboarding of siponimod in secondary progressive multiple sclerosis patients in Australia: Novel, real-world evidence from the MSGo digital support programme. Mult Scler J Exp Transl Clin. 2024 Jan 12;10(1):20552173231226106. doi: 10.1177/20552173231226106. |
| Yeow D, Rudaks LI, Siow SF, Davis RL, Kumar KR. Genetic Testing of Movements Disorders: A Review of Clinical Utility. Tremor Other Hyperkinet Mov (N Y). 2024 Jan 8;14:2. doi: 10.5334/tohm.835. |
| Liyanage G, Trewin BP, Lopez JA, Andersen J, Tea F, Merheb V, Nguyen K, Lee FXZ, Fabis-Pedrini MJ, Zou A, Buckland A, Fok A, Barnett MH, Reddel SW, Marignier R, El Hajj A, Monif M, van der Walt A, Lechner-Scott J, Kermode AG, Kalincik T, Broadley SA, Dale RC, Ramanathan S, Brilot F; on behalf the Australasian MOGAD Study Group. The MOG antibody non-P42 epitope is predictive of a relapsing course in MOG antibody-associated disease. J Neurol Neurosurg Psychiatry. 2024 May 14;95(6):544-553. doi: 10.1136/jnnp-2023-332851. |
| Binks SNM, Veldsman M, Handel AE, Jacob S, Maddison P, Coebergh J, Michael S, Ramanathan S, Easton A, Nissen MS, Leite MI, Okai D, Blaabjerg M, Husain M, Irani SR. Fatigue predicts quality of life after leucine-rich glioma-inactivated 1-antibody encephalitis. Ann Clin Transl Neurol. 2024 Apr;11(4):1053-1058. doi: 10.1002/acn3.52006. Epub 2024 Feb 1. |
| Pavey N, Hannaford A, van den Bos M, Kiernan MC, Menon P, Vucic S. Distinct neuronal circuits mediate cortical hyperexcitability in amyotrophic lateral sclerosis. Brain. 2024 Jul 5;147(7):2344-2356. doi: 10.1093/brain/awae049. |
| Hannaford A, Paling E, Silsby M, Vincenten S, van Alfen N, Simon NG. Electrodiagnostic studies and new diagnostic modalities for evaluation of peripheral nerve disorders. Muscle Nerve. 2024 Jun;69(6):653-669. doi: 10.1002/mus.28068. Epub 2024 Mar 3. |
| Chang EH, Hardy TA. Peripheral oedema as an adverse effect of treatment of secondary progressive multiple sclerosis with siponimod: A case series. J Neuroimmunol. 2024 Apr 15;389:578330. doi: 10.1016/j.jneuroim.2024.578330. Epub 2024 Mar 14. |
| El-Wahsh S, Fellner A, Hobbs M, Copty J, Deveson I, Stevanovski I, Stoll M, Zhu D, Narayanan RK, Grosz B, Worgan L, Cheong PL, Yeow D, Rudaks L, Hasan MM, Hayes VM, Kennerson M, Kumar KR, Hayes M. An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Mov Disord Clin Pract. 2024 May;11(5):582-585. doi: 10.1002/mdc3.14023. Epub 2024 Mar 18. |
| Kelly MJ, Grant E, Murchison AG, Binks S, Ramanathan S, Michael S, Handel AE, Handunnetthi L, Uy CE, Soltys JN, Dubey D, Day GS, Lopez-Chiriboga AS, Flanagan EP, Sheerin F, Irani SR. Magnetic Resonance Imaging Characteristics of LGI1-Antibody and CASPR2-Antibody Encephalitis. JAMA Neurol. 2024 May 1;81(5):525-533. doi: 10.1001/jamaneurol.2024.0126. |
| Higashihara M, Pavey N, Menon P, van den Bos M, Shibuya K, Kuwabara S, Kiernan MC, Koinuma M, Vucic S. Reduction in short interval intracortical inhibition from the early stage reflects the pathophysiology in amyotrophic lateral sclerosis: A meta-analysis study. Eur J Neurol. 2024 Jul;31(7):e16281. doi: 10.1111/ene.16281. Epub 2024 Mar 20. |
| Rudaks LI, Yeow D, Kumar KR. SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies. Mov Disord. 2024 Mar;39(3):457-461. doi: 10.1002/mds.29738. |
| Parmar JM, McNamara EL, Lamont PJ, Kumar KR, Rick A, Stoll M, Cheong PL, Ravenscroft G. Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report. Neurol Genet. 2024 Apr 25;10(3):e200152. doi: 10.1212/NXG.0000000000200152. |
| Kumar KR, Cowley MJ, Davis RL. Next-Generation Sequencing and Emerging Technologies. Semin Thromb Hemost. 2024 Oct;50(7):1026-1038. doi: 10.1055/s-0044-1786397. Epub 2024 May 1. |
| Dharmadasa T, Pavey N, Tu S, Menon P, Huynh W, Mahoney CJ, Timmins HC, Higashihara M, van den Bos M, Shibuya K, Kuwabara S, Grosskreutz J, Kiernan MC, Vucic S. Novel approaches to assessing upper motor neuron dysfunction in motor neuron disease/amyotrophic lateral sclerosis: IFCN handbook chapter. Clin Neurophysiol. 2024 Jul;163:68-89. doi: 10.1016/j.clinph.2024.04.010. Epub 2024 Apr 18. |
| Foxe D, Irish M, Carrick J, Cheung SC, Teng H, Burrell JR, Kessels RPC, Piguet O. Visuospatial working memory in behavioural variant frontotemporal dementia: a comparative analysis with Alzheimer's disease using the box task. J Neurol. 2024 Aug;271(8):4852-4863. doi: 10.1007/s00415-024-12406-0. Epub 2024 May 7. Erratum in: J Neurol. 2024 Aug;271(8):4864. doi: 10.1007/s00415-024-12483-1. |
| Kumar KR, Cowley MJ, Davis RL. The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice. Semin Thromb Hemost. 2024 Oct;50(7):1039-1046. doi: 10.1055/s-0044-1786756. Epub 2024 May 11. |
| Trewin BP, Dale RC, Qiu J, Chu M, Jeyakumar N, Dela Cruz F, Andersen J, Siriratnam P, Ma KKM, Hardy TA, van der Walt A, Lechner-Scott J, Butzkueven H, Broadley SA, Barnett MH, Reddel SW, Brilot F, Kalincik T, Ramanathan S; Australasian MOGAD Study Group. Oral corticosteroid dosage and taper duration at onset in myelin oligodendrocyte glycoprotein antibody-associated disease influences time to first relapse. J Neurol Neurosurg Psychiatry. 2024 Oct 16;95(11):1054-1063. doi: 10.1136/jnnp-2024-333463. |
| Rudaks LI, Yeow D, Ng K, Deveson IW, Kennerson ML, Kumar KR. An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches. Cerebellum. 2024 Oct;23(5):2152-2168. doi: 10.1007/s12311-024-01703-z. Epub 2024 May 18. |
| Fellner A, Wali GM, Mahant N, Grosz BR, Ellis M, Narayanan RK, Ng K, Davis RL, Tchan MC, Kotschet K, Yeow D, Rudaks LI, Siow SF, Wali G, Yiannikas C, Hobbs M, Copty J, Geaghan M, Darveniza P, Liang C, Williams LJ, Chang FCF, Morales-Briceño H, Tisch S, Hayes M, Whyte S, Kummerfeld S, Kennerson ML, Cowley MJ, Fung VSC, Sue CM, Kumar KR. Genome sequencing reanalysis increases the diagnostic yield in dystonia. Parkinsonism Relat Disord. 2024 Jul;124:107010. doi: 10.1016/j.parkreldis.2024.107010. Epub 2024 May 14. |
| Calma AD, Pavey N, Menon P, Vucic S. Neuroinflammation in amyotrophic lateral sclerosis: pathogenic insights and therapeutic implications. Curr Opin Neurol. 2024 Oct 1;37(5):585-592. doi: 10.1097/WCO.0000000000001279. Epub 2024 May 22. |
| Jeyakumar N, Lerch M, Dale RC, Ramanathan S. MOG antibody-associated optic neuritis. Eye (Lond). 2024 Aug;38(12):2289-2301. doi: 10.1038/s41433-024-03108-y. Epub 2024 May 23. |
| Rada A, Hagemann A, Aaberg Poulsen C, Baumgartner T, Berki T, Blaabjerg M, Brenner J, Britton JW, Christiana A, Ciano-Petersen NL, Crijnen Y, Elišák M, Farina A, Friedman AR, Hayden Z, Hébert J, Holtkamp M, Hong Z, Honnorat J, Ilyas-Feldmann M, Irani SR, Kovac S, Marusic P, Muñiz-Castrillo S, Ramanathan S, Smith KM, Steriade C, Strippel C, Surges R, Titulaer MJ, Uy CE, de Vries JM, Bien CG, Specht U. Risk of Seizure Recurrence Due to Autoimmune Encephalitis With NMDAR, LGI1, CASPR2, and GABABR Antibodies: Implications for Return to Driving. Neurol Neuroimmunol Neuroinflamm. 2024 Jul;11(4):e200225. doi: 10.1212/NXI.0000000000200225. Epub 2024 Jun 4. |
| Shi L, Ghezzi L, Fenoglio C, Pietroboni AM, Galimberti D, Pace F, Hardy TA, Piccio L, Don AS. CSF sphingolipids are correlated with neuroinflammatory cytokines and differentiate neuromyelitis optica spectrum disorder from multiple sclerosis. J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):54-67. doi: 10.1136/jnnp-2024-333774. |
| Grosz BR, Parmar JM, Ellis M, Bryen S, Simons C, Reis ALM, Stevanovski I, Deveson IW, Nicholson G, Laing N, Wallis M, Ravenscroft G, Kumar KR, Vucic S, Kennerson ML. A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. J Peripher Nerv Syst. 2024 Jun;29(2):262-274. doi: 10.1111/jns.12637. Epub 2024 Jun 11. |
| Arnett SV, Prain K, Ramanathan S, Bhuta S, Brilot F, Broadley SA. Long-term outcomes of ADEM-like and tumefactive presentations of CNS demyelination: a case-comparison analysis. J Neurol. 2024 Aug;271(8):5275-5289. doi: 10.1007/s00415-024-12349-6. Epub 2024 Jun 11. |
| Foxe D, Irish M, Carrick J, Cheung SC, Teng H, Burrell JR, Kessels RPC, Piguet O. Correction to: Visuospatial working memory in behavioural variant frontotemporal dementia: a comparative analysis with Alzheimer's disease using the box task. J Neurol. 2024 Aug;271(8):4864. doi: 10.1007/s00415-024-12483-1. Erratum for: J Neurol. 2024 Aug;271(8):4852-4863. doi: 10.1007/s00415-024-12406-0. |
| Siow SF, Waters A, Coward S, Wali G, Ng K, Sue CM, Kumar KR. Outcome measures for hereditary spastic paraplegia clinical trials: Learnings from an Australian HSP center. J Neurol Sci. 2024 Jul 15;462:123100. doi: 10.1016/j.jns.2024.123100. Epub 2024 Jun 20. |
| Rudaks LI, Yeow D, Kumar KR. Reply to: Comment to "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies". Mov Disord. 2024 Jun;39(6):1078. doi: 10.1002/mds.29829. |
| Lal AP, Foong YC, Sanfilippo PG, Spelman T, Rath L, Levitz D, Fabis-Pedrini M, Foschi M, Habek M, Kalincik T, Roos I, Lechner-Scott J, John N, Soysal A, D'Amico E, Gouider R, Mrabet S, Gross-Paju K, Cárdenas-Robledo S, Moghadasi AN, Sa MJ, Gray O, Oh J, Reddel S, Ramanathan S, Al-Harbi T, Altintas A, Hardy TA, Ozakbas S, Alroughani R, Kermode AG, Surcinelli A, Laureys G, Eichau S, Prat A, Girard M, Duquette P, Hodgkinson S, Ramo-Tello C, Maimone D, McCombe P, Spitaleri D, Sanchez-Menoyo JL, Yetkin MF, Baghbanian SM, Karabudak R, Al-Asmi A, Jakob GB, Khoury SJ, Etemadifar M, van Pesch V, Buzzard K, Taylor B, Butzkueven H, Van der Walt A. A multi-centre longitudinal study analysing multiple sclerosis disease-modifying therapy prescribing patterns during the COVID-19 pandemic. J Neurol. 2024 Sep;271(9):5813-5824. doi: 10.1007/s00415-024-12518-7. Epub 2024 Jun 27. |
| Koncz R, Say MJ, Gleason A, Hardy TA. The neurocognitive and neuropsychiatric manifestations of Susac syndrome: a brief review of the literature and future directions. Neurol Sci. 2024 Nov;45(11):5181-5187. doi: 10.1007/s10072-024-07672-9. Epub 2024 Jul 2. |
| Chan F, Hardy TA, Malik S, Ramanathan S, Riminton DS, Reddel SW. Induction cyclophosphamide with maintenance immunosuppression in high-risk myasthenia gravis: long-term follow-up and safety profile. J Neurol Neurosurg Psychiatry. 2024 Nov 18;95(12):1096-1101. doi: 10.1136/jnnp-2023-333189. |
| Siow SF, Kumar KR. Clinical phenotyping is key to differentiating RFC1-associated neuropathy from immune-mediated neuropathy. Brain Commun. 2024 Jun 15;6(4):fcae212. doi: 10.1093/braincomms/fcae212. |
| Smilowska K, Mehanna R, Fleisher JE, Alcalay RN, Kumar KR, Marras C, Oosterbaan AM, Post B, Ross OA, Pimentel Piemonte ME, Fraix V, Moro E, King Tan E, Savica R; EOPD Task Force. Unmet Need in Early-Onset Parkinson's Disease: Deep Brain Stimulation and Pregnancy. J Parkinsons Dis. 2024;14(6):1277-1282. doi: 10.3233/JPD-240088. |
| De Brouwer E, Becker T, Werthen-Brabants L, Dewulf P, Iliadis D, Dekeyser C, Laureys G, Van Wijmeersch B, Popescu V, Dhaene T, Deschrijver D, Waegeman W, De Baets B, Stock M, Horakova D, Patti F, Izquierdo G, Eichau S, Girard M, Prat A, Lugaresi A, Grammond P, Kalincik T, Alroughani R, Grand'Maison F, Skibina O, Terzi M, Lechner-Scott J, Gerlach O, Khoury SJ, Cartechini E, Van Pesch V, Sà MJ, Weinstock-Guttman B, Blanco Y, Ampapa R, Spitaleri D, Solaro C, Maimone D, Soysal A, Iuliano G, Gouider R, Castillo-Triviño T, Sánchez-Menoyo JL, Laureys G, van der Walt A, Oh J, Aguera-Morales E, Altintas A, Al-Asmi A, de Gans K, Fragoso Y, Csepany T, Hodgkinson S, Deri N, Al-Harbi T, Taylor B, Gray O, Lalive P, Rozsa C, McGuigan C, Kermode A, Sempere AP, Mihaela S, Simo M, Hardy T, Decoo D, Hughes S, Grigoriadis N, Sas A, Vella N, Moreau Y, Peeters L. Machine-learning-based prediction of disability progression in multiple sclerosis: An observational, international, multi-center study. PLOS Digit Health. 2024 Jul 25;3(7):e0000533. doi: 10.1371/journal.pdig.0000533. |
| Reynolds M, Tan I, Nguyen K, Merheb V, Lee FXZ, Trewin BP, Lerch M, Shah S, Wolfe N, Buzzard K, Lechner-Scott J, Fabis-Pedrini M, Fok A, John N, Kneebone C, Yiannikas C, Brown DA, Kermode AG, Reddel S, Dale RC, Brilot F, Ramanathan S; Australasian MOGAD Study Group. The clinical relevance of MOG antibody testing in cerebrospinal fluid. Ann Clin Transl Neurol. 2024 Sep;11(9):2514-2519. doi: 10.1002/acn3.52163. Epub 2024 Jul 28. |
| Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle JC, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson's Genetics Program (GP2). Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale. Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925. Epub 2024 Jul 30. |
| Klyscz P, Asseyer S, Alonso R, Bereuter C, Bialer O, Bick A, Carta S, Chen JJ, Cohen L, Cohen-Tayar Y, Carnero Contentti E, Dale RC, Flanagan EP, Gernert JA, Haas J, Havla J, Heesen C, Hellmann M, Levin N, Lopez P, Lotan I, Luis MB, Mariotto S, Mayer C, Vergara AJM, Ocampo C, Ochoa S, Oertel FC, Olszewska M, Uribe JLP, Sastre-Garriga J, Scocco D, Ramanathan S, Rattanathamsakul N, Shi FD, Shifa J, Simantov I, Siritho S, Tiosano A, Tisavipat N, Torres I, Dembinsky AV, Vidal-Jordana A, Wilf-Yarkoni A, Wu T, Zamir S, Zarco LA, Zimmermann HG, Petzold A, Paul F, Stiebel-Kalish H. Application of the international criteria for optic neuritis in the Acute Optic Neuritis Network. Ann Clin Transl Neurol. 2024 Sep;11(9):2473-2484. doi: 10.1002/acn3.52166. Epub 2024 Aug 4. |
| Foxe D, Ainkaran G, Carrick J, Cheung SC, Ahmed RM, Narasimhan M, Burrell JR, Hwang YT, Irish M, Piguet O. Everyday Memory Disturbance in Primary Progressive Aphasia. Eur Neurol. 2024;87(4):177-187. doi: 10.1159/000540340. Epub 2024 Aug 16. |
| El-Wahsh S, Fraser C, Vucic S, Reddel S. Neuromuscular junction disorders: mimics and chameleons. Pract Neurol. 2024 Nov 17;24(6):467-477. doi: 10.1136/pn-2024-004148. |
| Calma AD, van den Bos M, Pavey N, Santos Silva C, Menon P, Vucic S. Physiological Biomarkers of Upper Motor Neuron Dysfunction in ALS. Brain Sci. 2024 Jul 29;14(8):760. doi: 10.3390/brainsci14080760. |
| Hardy TA, Weinshenker BG. Relapsing tumefactive demyelination: time to recognize a distinct demyelinating condition? Mult Scler. 2024 Dec;30(14):1838-1839. doi: 10.1177/13524585241273075. Epub 2024 Sep 8. |
| El-Wahsh S, Morris K, Limaye S, Riminton S, Corbett A, Triplett JD. Hypogammaglobulinemia and infection risk in myotonic dystrophy type 1. Muscle Nerve. 2024 Nov;70(5):1034-1039. doi: 10.1002/mus.28247. Epub 2024 Sep 12. |
| Vo HLT, Elias S, Hardy TA. Cognitive behavioural therapy for fatigue in patients with multiple sclerosis: A systematic review and meta-analysis. Mult Scler Relat Disord. 2024 Nov;91:105908. doi: 10.1016/j.msard.2024.105908. Epub 2024 Sep 26. |
| Yeh WZ, Van Der Walt A, Skibina OG, Kalincik T, Alroughani R, Kermode AG, Fabis-Pedrini MJ, Carroll WM, Lechner-Scott J, Boz C, Ozakbas S, Buzzard K, Habek M, John NA, Prat A, Girard M, Duquette P, Baghbanian SM, Hodgkinson S, Van Pesch V, Laureys G, Willekens B, Prevost J, Foschi M, De Gans K, Horakova D, Havrdova EK, Karabudak R, Patti F, Mccombe PA, Maimone D, Altintas A, Ampapa R, Spitaleri D, Gerlach OHH, Sa MJ, Hughes S, Gouider R, Mrabet S, Macdonell RA, Turkoglu R, Cartechini E, Al-Asmi A, Soysal A, Oh J, Muros-Le Rouzic E, Guye S, Pasquarelli N, Butzkueven H, Jokubaitis VG; MSBase Study Group. Disease Activity in Pregnant and Postpartum Women With Multiple Sclerosis Receiving Ocrelizumab or Other Disease-Modifying Therapies. Neurol Neuroimmunol Neuroinflamm. 2024 Nov;11(6):e200328. doi: 10.1212/NXI.0000000000200328. Epub 2024 Oct 23. |
| Halliday AJ, Lambert K, Bundell C, McLean-Tooke A, Gillis D, Prain KM, Bryson G, Gillinder L, Brown D, Ramanathan S, Dale R, Brilot F, Jordan N, Lawn N, Lai A, Boyd J; Australian Adult Comprehensive Epilepsy Centres Consortium; Camacho X, D'Souza WJ. RESILIENCE (Retrospective Linkage Study of Autoimmune Encephalitis): protocol for an Australian retrospective cohort study of outcomes in autoimmune encephalitis using data linkage techniques. BMJ Open. 2024 Dec 5;14(12):e084664. doi: 10.1136/bmjopen-2024-084664. |
| Calma AD, Young S, Sandbach J, Riminton S, Reddel SW, Ramanathan S. Targeting alpha-4 integrin with natalizumab for intermediate uveitis associated with multiple sclerosis. Mult Scler J Exp Transl Clin. 2024 Dec 10;10(4):20552173241301034. doi: 10.1177/20552173241301034. |
| Chauvin SD, Holley JA, Poddar S, Miner CA, Kumble L, Fu J, Laue-Gizzi H, Hardy TA, Miner JJ. Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy. J Clin Immunol. 2024 Dec 13;45(1):54. doi: 10.1007/s10875-024-01846-y. |
| Zochowski Y, Kumar KR, Katz M, Darveniza P, Tchan M, Smyth R, Tomlinson S, Wu KHC, Tisch S. Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease. Cerebellum. 2024 Dec 16;24(1):13. doi: 10.1007/s12311-024-01762-2. |
| Siow SF, Fleming J, Barlow-Stewart K, Wali G, Kumar KR, Sue CM. Designing and Validating a Hereditary Spastic Paraplegia-Specific Quality of Life Rating Scale (HSPQoL). Cerebellum. 2024 Dec 17;24(1):14. doi: 10.1007/s12311-024-01771-1. |
| Tan AH, Saffie-Awad P, Schumacher Schuh AF, Lim SY, Madoev H, Ahmad-Annuar A, Solle J, Wegel CE, Doquenia ML, Dey S, Perinan MT, Makarious MB, Fiske B, Morris HR, Noyce AJ, Alcalay RN, Kumar KR, Klein C; Global Parkinson's Genetic Program (GP2). Global Perspectives on Returning Genetic Research Results in Parkinson Disease. Neurol Genet. 2024 Dec 5;10(6):e200213. doi: 10.1212/NXG.0000000000200213. |
