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Page 1
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.
Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G. Mirchi A, et al. Among authors: kauffman m. Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9. Pediatr Neurol. 2018. PMID: 29859719 Free article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz… See abstract for full author list ➔ Pelletier F, et al. Among authors: kauffman m. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.
Cordoba M, Rodriguez-Quiroga S, Gatto EM, Alurralde A, Kauffman MA. Cordoba M, et al. Among authors: kauffman ma. Neurology. 2014 Jul 15;83(3):287-8. doi: 10.1212/WNL.0000000000000600. Epub 2014 Jun 13. Neurology. 2014. PMID: 24928119 No abstract available.
Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases.
Espay AJ, Vizcarra JA, Marsili L, Lang AE, Simon DK, Merola A, Josephs KA, Fasano A, Morgante F, Savica R, Greenamyre JT, Cambi F, Yamasaki TR, Tanner CM, Gan-Or Z, Litvan I, Mata IF, Zabetian CP, Brundin P, Fernandez HH, Standaert DG, Kauffman MA, Schwarzschild MA, Sardi SP, Sherer T, Perry G, Leverenz JB. Espay AJ, et al. Among authors: kauffman ma. Neurology. 2019 Feb 12;92(7):329-337. doi: 10.1212/WNL.0000000000006926. Neurology. 2019. PMID: 30745444 Free PMC article. Review.
Head tremor at disease onset: an ataxic phenotype of cervical dystonia.
Merola A, Dwivedi AK, Shaikh AG, Tareen TK, Da Prat GA, Kauffman MA, Hampf J, Mahajan A, Marsili L, Jankovic J, Comella CL, Berman BD, Perlmutter JS, Jinnah HA, Espay AJ. Merola A, et al. J Neurol. 2019 Aug;266(8):1844-1851. doi: 10.1007/s00415-019-09341-w. Epub 2019 Apr 26. J Neurol. 2019. PMID: 31028543 Free PMC article.
Disease modification and biomarker development in Parkinson disease: Revision or reconstruction?
Espay AJ, Kalia LV, Gan-Or Z, Williams-Gray CH, Bedard PL, Rowe SM, Morgante F, Fasano A, Stecher B, Kauffman MA, Farrer MJ, Coffey CS, Schwarzschild MA, Sherer T, Postuma RB, Strafella AP, Singleton AB, Barker RA, Kieburtz K, Olanow CW, Lozano A, Kordower JH, Cedarbaum JM, Brundin P, Standaert DG, Lang AE. Espay AJ, et al. Among authors: kauffman ma. Neurology. 2020 Mar 17;94(11):481-494. doi: 10.1212/WNL.0000000000009107. Epub 2020 Feb 26. Neurology. 2020. PMID: 32102975 Free PMC article. Review.
Benign versus malignant Parkinson disease: the unexpected silver lining of motor complications.
Merola A, Romagnolo A, Dwivedi AK, Padovani A, Berg D, Garcia-Ruiz PJ, Fabbri M, Artusi CA, Zibetti M, Lopiano L, Pilotto A, Bonacina S, Morgante F, Zeuner K, Griewing C, Schaeffer E, Rodriguez-Porcel F, Kauffman M, Turcano P, de Oliveira LM, Palermo G, Shanks E, Del Sorbo F, Bonvegna S, Savica R, Munhoz RP, Ceravolo R, Cilia R, Espay AJ. Merola A, et al. Among authors: kauffman m. J Neurol. 2020 Oct;267(10):2949-2960. doi: 10.1007/s00415-020-09954-6. Epub 2020 Jun 2. J Neurol. 2020. PMID: 32488298
340 results