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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1985 1
1986 2
1988 1
1991 1
1993 1
1994 1
1996 1
2001 1
2002 2
2007 3
2008 3
2011 1
2012 2
2013 3
2016 1
2017 2
2018 1
2019 3
2020 3
2021 2
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32 results
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Page 1
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, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. Pelletier F, et al. Among authors: monton fi. 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.
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Perrier S, et al. Among authors: monton fi. Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582862 Free PMC article.
Depressive symptoms in Friedreich ataxia.
Nieto A, Hernández-Torres A, Pérez-Flores J, Montón F. Nieto A, et al. Among authors: monton f. Int J Clin Health Psychol. 2018 Jan-Apr;18(1):18-26. doi: 10.1016/j.ijchp.2017.11.004. Epub 2017 Dec 8. Int J Clin Health Psychol. 2018. PMID: 30487906 Free PMC article.
Longitudinal Study of Cognitive Functioning in Friedreich's Ataxia.
Hernández-Torres A, Montón F, Hess Medler S, de Nóbrega É, Nieto A. Hernández-Torres A, et al. Among authors: monton f. J Int Neuropsychol Soc. 2021 Apr;27(4):343-350. doi: 10.1017/S1355617720000958. Epub 2020 Oct 14. J Int Neuropsychol Soc. 2021. PMID: 33050966
Cognition in Friedreich ataxia.
Nieto A, Correia R, de Nóbrega E, Montón F, Hess S, Barroso J. Nieto A, et al. Among authors: monton f. Cerebellum. 2012 Dec;11(4):834-44. doi: 10.1007/s12311-012-0363-9. Cerebellum. 2012. PMID: 22351352
Cognition in late-onset Friedreich ataxia.
Nieto A, Correia R, de Nóbrega E, Montón F, Barroso J. Nieto A, et al. Among authors: monton f. Cerebellum. 2013 Aug;12(4):504-12. doi: 10.1007/s12311-013-0457-z. Cerebellum. 2013. PMID: 23397368
Paroxysmal hemicrania.
Leon JC, Monton FI. Leon JC, et al. Among authors: monton fi. Neurology. 1994 Nov;44(11):2215-6. doi: 10.1212/wnl.44.11.2215-a. Neurology. 1994. PMID: 7832904 No abstract available.
32 results