The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Tremor and ataxia in fragile X premutation carriers: Blinded videotape study
Abstract
Fragile X premutation carriers do not have typical fragile X syndrome (FXS) although late‐onset progressive action tremor and gait disorder with CNS atrophy was recently reported in male carriers. We compared tremor, gait disorder and parkinsonian signs in FXS premutation subjects (age 50 or more) and a similar control population, using a standardized videotaping protocol. Videotapes were rated using standard scales for tremor (CRST), ataxia (ICARS), and parkinsonian signs (UPDRS) by an investigator blinded to premutation status. Compared to all other groups pooled (n = 30), the male premutation carrier group (n = 7) had significantly higher scores on the CRST (p = 0.0008), ICARS (p = 0.001), and UPDRS (p = 0.0094). On the CRST, rest, postural and kinetic tremor scores were all higher in the male carriers. The elevated total UPDRS and ICARS scores mainly resulted from markedly higher scores for tremor and limb ataxia, respectively. The female carrier (n = 14) and control groups (n = 8) did not differ on any measure. The FMR1 premutation is associated with increased levels of CGG repeat‐containing FMR1 mRNA, which may predispose to these symptoms by interfering with nuclear mechanisms. Given the relatively high population frequency of the FMR1 premutation, this mutation may be a significant cause of late‐onset “idiopathic” progressive tremor. Ann Neurol 2003
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“However, there is evidence that DA functioning may be atypical in FXS, as shown by high rates of comorbidity with tremor disorders [725], higher blink rates [726], and emerging preclinical models [714].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [725]
Citations
Cites
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Members of the UPDRS Development Committee. Unified Parkinson's Disease Rating Scale
Fahn, S. (1987) · Medical Entomology and Zoology · Cited by 2,163
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
Trouillas, P., Takayanagi, T., Hallett, M., Currier, R. D., Subramony, S. H., Wessel, K., Bryer, A., Diener, H., Massaquoi, S. G., Gomez, C. M., et al. (1997) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(96)00231-6 · Cited by 1,281
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kreß, W., Naylor, S. L., Day, J., & Ranum, L. P. W. (2001) · Science · doi:10.1126/science.1062125 · Cited by 1,254
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
Hagerman, R. J., Leehey, M. A., Heinrichs, W. L., Tassone, F., Wilson, R., Hills, J. D., Grigsby, J., Gage, B. F., & Hagerman, P. J. (2001) · Neurology · doi:10.1212/wnl.57.1.127 · Cited by 966
Self-citationCore assessment program for surgical interventional therapies in Parkinson's disease (CAPSIT-PD)
Defer, G., Widner, H., Mari�, R.-M., Rémy, P., & Levivier, M. (1999) · Movement Disorders · doi:10.1002/1531-8257(199907)14:4 · Cited by 863
Self-citationSavkur, R. S., Philips, A. V., & Cooper, T. A. (2001) · Nature Genetics · doi:10.1038/ng704 · Cited by 795
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781
Cited by
Sorted by citations
Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
Jacquemont, S. (2004) · JAMA · doi:10.1001/jama.291.4.460 · Cited by 697
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
Greco, C., Berman, R. F., Martin, R. M., Tassone, F., Schwartz, P. H., Chang, A., Trapp, B. D., Iwahashi, C. K., Brunberg, J. A., Grigsby, J., et al. (2005) · Brain · doi:10.1093/brain/awh683 · Cited by 533
Self-citationThe Fragile-X Premutation: A Maturing Perspective
Hagerman, P. J., & Hagerman, R. J. (2004) · The American Journal of Human Genetics · doi:10.1086/386296 · Cited by 524
Self-citationProtein composition of the intranuclear inclusions of FXTAS
Iwahashi, C., Yasui, D. H., An, H. J., Greco, C., Tassone, F., Nannen, K., Babineau, B. A., Lebrilla, C. B., Hagerman, R. J., & Hagerman, P. J. (2005) · Brain · doi:10.1093/brain/awh650 · Cited by 368
Self-citationFragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
Berry‐Kravis, E., Abrams, L. J., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., Grigsby, J., Bourgeois, J. A., Finucane, B. M., Jacquemont, S., et al. (2007) · Movement Disorders · doi:10.1002/mds.21493 · Cited by 334
Self-citationFragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation
Hagerman, R. J., Leavitt, B. R., Farzin, F., Jacquemont, S., Greco, C., Brunberg, J. A., Tassone, F., Hessl, D. R., Harris, S. W., Zhang, L., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/420700 · Cited by 325
Self-citationDichter, G. S., Damiano, C. A., & Allen, J. A. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-19 · Cited by 299
FMR1 RNA within the Intranuclear Inclusions of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Tassone, F., Iwahashi, C., & Hagerman, P. J. (2004) · RNA Biology · doi:10.4161/rna.1.2.1035 · Cited by 240
Self-citationHessl, D. R., Tassone, F., Loesch, D. Z., Berry‐Kravis, E., Leehey, M. A., Gane, L. W., Barbato, I. T., Rice, C. D., Gould, E. L., Hall, D. A., et al. (2005) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30241 · Cited by 233
Self-citationFragile X‐associated Tremor/Ataxia Syndrome (FXTAS)
Hagerman, P. J., & Hagerman, R. J. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20005 · Cited by 219
Self-citationLessons from Fragile X Regarding Neurobiology, Autism, and Neurodegeneration
Hagerman, R. J. (2006) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200602000-00012 · Cited by 200
Self-citationFMR1 CGG repeat length predicts motor dysfunction in premutation carriers
Leehey, M. A., Berry‐Kravis, E., Goetz, C. G., Zhang, L., Hall, D. A., Li, L., Rice, C. D., Lara, R., Cogswell, J. B., Reynolds, A., et al. (2007) · Neurology · doi:10.1212/01.wnl.0000281692.98200.f5 · Cited by 188
Self-citationFragile X-Associated Tremor/Ataxia Syndrome: Clinical Phenotype, Diagnosis, and Treatment
Leehey, M. A. (2009) · Journal of Investigative Medicine · doi:10.2310/jim.0b013e3181af59c4 · Cited by 178
Self-citationTassone, F., Hagerman, R. J., Garcia-Arocena, D., Khandjian, E. W., Greco, C. M., & Hagerman, P. J. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.012518 · Cited by 172
Self-citationGrigsby, J., Brega, A. G., Engle, K., Leehey, M. A., Hagerman, R. J., Tassone, F., Hessl, D. R., Hagerman, P. J., Cogswell, J. B., Bennett, R. E., et al. (2008) · Neuropsychology · doi:10.1037/0894-4105.22.1.48 · Cited by 171
Self-citationSchmitz‐Hübsch, T., du Montcel, S. T., Balikó, L., Boesch, S., Bonato, S., Fancellu, R., Giunti, P., Globas, C., Kang, J., Kremer, B. P. H., et al. (2006) · Movement Disorders · doi:10.1002/mds.20781 · Cited by 171
Bodega, B., Bione, S., Dalprà, L., Toniolo, D., Ornaghi, F., Vegetti, W., Ginelli, E., & Marozzi, A. (2005) · Human Reproduction · doi:10.1093/humrep/dei432 · Cited by 172
Garcia-Arocena, D., Iwahashi, C., Won, N., Beilina, A. G., Ludwig, A. L., Tassone, F., Schwartz, P. H., & Hagerman, P. J. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi394 · Cited by 153
Self-citationThe emerging fragile X premutation phenotype: Evidence from the domain of social cognition
Cornish, K., Kogan, C., Turk, J., Manly, T., James, N., Mills, A., & Dalton, A. (2005) · Brain and Cognition · doi:10.1016/j.bandc.2004.08.020 · Cited by 148
Chen, L.-S. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg331 · Cited by 136
Fragile X–associated tremor/ataxia syndrome in sisters related to X‐inactivation
Berry‐Kravis, E., Potanos, K. M., Weinberg, D., Zhou, L., & Goetz, C. G. (2004) · Annals of Neurology · doi:10.1002/ana.20360 · Cited by 128
Self-citationA fragile balance: FMR1 expression levels
Oostra, B. A., & Willemsen, R. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg298 · Cited by 130
Loesch, D. Z., Bui, M., Grigsby, J., Butler, E., Epstein, J., Huggins, R., Taylor, A. K., & Hagerman, R. J. (2003) · Neuropsychology · doi:10.1037/0894-4105.17.4.646 · Cited by 119
Self-citationRecent advances in fragile X: a model for autism and neurodegeneration
Hagerman, R. J., Ono, M. Y., & Hagerman, P. J. (2005) · Current Opinion in Psychiatry · doi:10.1097/01.yco.0000179485.39520.b0 · Cited by 116
Self-citationHunsaker, M. R., Greco, C., Spath, M. A., Smits, A. P. T., Navarro, C. S., Tassone, F., Kros, J. M., Severijnen, L.-A. W. F. M., Berry‐Kravis, E., Berman, R. F., et al. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0860-9 · Cited by 110
Self-citationKamm, C., Healy, D. G., Quinn, N. P., Wüllner, U., Möller, J. C., Schöls, L. J., Geser, F., Bürk, K., Børglum, A. D., Pellecchia, M. T., et al. (2005) · Brain · doi:10.1093/brain/awh535 · Cited by 106
Neuropathic features in fragile X premutation carriers
Berry‐Kravis, E., Goetz, C. G., Leehey, M. A., Hagerman, R. J., Zhang, L., Li, L., Nguyen, D. V., Hall, D. A., Tartaglia, N. R., Cogswell, J. B., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31559 · Cited by 95
Self-citationAssessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations
Perez‐Lloret, S., van de Warrenburg, B. P. C., Rossi, M., Rodríguez‐Blázquez, C., Zesiewicz, T. A., Saute, J. A. M., Dürr, A., Nishizawa, M., Martínez‐Martín, P., Stebbins, G. T., et al. (2020) · Movement Disorders · doi:10.1002/mds.28313 · Cited by 99
Brega, A. G., Goodrich, G. K., Bennett, R. E., Hessl, D. R., Engle, K., Leehey, M. A., Bounds, L. S., Paulich, M. J., Hagerman, R. J., Hagerman, P. J., et al. (2008) · Journal of Clinical and Experimental Neuropsychology · doi:10.1080/13803390701819044 · Cited by 91
Self-citationThe cognitive neuropsychological phenotype of carriers of the FMR1 premutation
Grigsby, J., Cornish, K. M., Hocking, D. R., Kraan, C. M., Olichney, J., Rivera, S. M., Schneider, A., Sherman, S. L., Wang, J. Y., & Yang, J.-C. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-28 · Cited by 88
Fragile X-associated tremor/ataxia syndrome
Leehey, M. A., & Hagerman, P. J. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-51892-7.00023-1 · Cited by 84
Self-citationKhateb, S., Weisman-Shomer, P., Hershco-Shani, I., Ludwig, A. L., & Fry, M. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm636 · Cited by 87
Ofer, N., Weisman-Shomer, P., Shklover, J., & Fry, M. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp130 · Cited by 80
Fibroblast phenotype in male carriers of FMR1 premutation alleles
Garcia-Arocena, D., Yang, J. E., Brouwer, J. R., Tassone, F., Iwahashi, C., Berry‐Kravis, E., Goetz, C. G., Sumis, A. M., Zhou, L., Nguyen, D. V., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp497 · Cited by 76
Self-citationHunter, J. E., Allen, E. G., Abramowitz, A. J., Rusin, M. J., Leslie, M., Novak, G., Hamilton, D., Shubeck, L., Charen, K. H., & Sherman, S. L. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.10.021 · Cited by 75
Klein, C., Schneider, S. A., & Lang, A. E. (2009) · Movement Disorders · doi:10.1002/mds.22675 · Cited by 73
Loesch, D. Z., Churchyard, A., Brotchie, P., Marot, M., & Tassone, F. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00425.x · Cited by 72
Unstable Mutations in the FMR1 Gene and the Phenotypes
Loesch, D. Z., & Hagerman, R. J. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-5434-2_6 · Cited by 67
Self-citationMultiple system atrophy of the cerebellar type: Clinical state of the art
Lin, D. J., Hermann, K. L., & Schmahmann, J. D. (2014) · Movement Disorders · doi:10.1002/mds.25847 · Cited by 67
Magnetic resonance imaging study in older fragile X premutation male carriers
Loesch, D. Z., Litewka, L., Brotchie, P., Huggins, R., Tassone, F., & Cook, M. J. (2005) · Annals of Neurology · doi:10.1002/ana.20542 · Cited by 66
Loesch, D. Z., Cook, M. J., Litewka, L., Gould, E., Churchyard, A., Tassone, F., Slater, H., & Storey, E. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.054171 · Cited by 62
Parkinsonism and Related Disorders
Slow, E., & Lang, A. E. (2019) · DeckerMed Transitional Year Weekly Curriculum™ · doi:10.2310/tywc.1178 · Cited by 62
Kraan, C. M., Hocking, D. R., Bradshaw, J. L., Fielding, J., Cohen, J., Georgiou‐Karistianis, N., & Cornish, K. M. (2013) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2013.01.010 · Cited by 53
Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): Revisited
Niu, Y., Yang, J.-C., Hall, D. A., Leehey, M. A., Tassone, F., Olichney, J., Hagerman, R. J., & Zhang, L. (2014) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2014.01.006 · Cited by 53
Self-citationHall, D. A., & O’Keefe, J. A. (2011) · Europe PMC (PubMed Central) · doi:10.7916/d8hd7tds · Cited by 48
A cerebellar tremor/ataxia syndrome among fragile X premutation carriers
Hagerman, P. J., Greco, C., & Hagerman, R. J. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072856 · Cited by 48
Self-citationThe Fragile X-Associated Tremor Ataxia Syndrome
Tassone, F., & Hagerman, R. J. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_18 · Cited by 43
Self-citationHan, X., Powell, B. R., Phalin, J., & Chehab, F. F. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31291 · Cited by 38
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers
Ceravolo, R., Antonini, A., Volterrani, D., Rossi, C., Goldwurm, S., Di Maria, E., Kiferle, L., Bonuccelli, U., & Murri, L. (2005) · Neurology · doi:10.1212/01.wnl.0000188821.51055.52 · Cited by 33
Argonaute2 Suppresses Drosophila Fragile X Expression Preventing Neurogenesis and Oogenesis Defects
Pepper, A. S.-R., Beerman, R. W., Bhogal, B., & Jongens, T. A. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007618 · Cited by 32
Hannan, A. J. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-5434-2_1 · Cited by 34
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders
Robertson, E. E., Hall, D. A., McAsey, A., & O’Keefe, J. A. (2016) · The Clinical Neuropsychologist · doi:10.1080/13854046.2016.1202239 · Cited by 30
Understanding the biological underpinnings of fragile X syndrome
Chiurazzi, P., Neri, G., & Oostra, B. A. (2003) · Current Opinion in Pediatrics · doi:10.1097/00008480-200312000-00003 · Cited by 29
Fragile X-associated tremor/ataxia syndrome and movements disorders
Baba, Y., & Uitti, R. J. (2005) · Current Opinion in Neurology · doi:10.1097/01.wco.0000168332.99305.50 · Cited by 27
Maltman, N., Guilfoyle, J. L., Nayar, K., Martin, G. E., Winston, M., Lau, J. C. Y., Bush, L., Patel, S. P., Lee, M., Sideris, J. H., et al. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.718485 · Cited by 25
Self-citationTreatment effects of stimulant medication in young boys with fragile X syndrome
Roberts, J. E., Miranda, M., Boccia, M. L., Janes, H., Tonnsen, B. L., & Hatton, D. D. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9085-4 · Cited by 30
Keller, S. R., & Dure, L. S. (2009) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2009.03.007 · Cited by 26
Blink rate in boys with fragile X syndrome: preliminary evidence for altered dopamine function
Roberts, J. E., Symons, F. J., Johnson, A. ‐., Hatton, D. D., & Boccia, M. L. (2005) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2005.00713.x · Cited by 24
Dampened dopamine‐mediated neuromodulation in prefrontal cortex of fragile X mice
Paul, K., Venkitaramani, D. V., & Cox, C. L. (2012) · The Journal of Physiology · doi:10.1113/jphysiol.2012.241067 · Cited by 25
Loesch, D. Z., Tassone, F., Atkinson, A., Stimpson, P., Trost, N. M., Pountney, D. L., & Storey, E. (2021) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.577246 · Cited by 24
Tassone, F., Hagerman, P. J., & Hagerman, R. J. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-22 · Cited by 22
Self-citationThe fragile x-associated tremor and ataxia syndrome (FXTAS)
Capelli, L. P., Gonçalves, M. R. R., Leite, C. C., Barbosa, E. R., Nitríni, R., & Vianna‐Morgante, A. M. (2010) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x2010000500023 · Cited by 17
Wang, Z., Khemani, P., Schmitt, L., Lui, S., & Mosconi, M. W. (2019) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-018-9261-x · Cited by 17
FMRP ribonucleoprotein complexes and RNA homeostasis
Suardi, G. A. M., & Haddad, L. A. (2020) · Advances in genetics · doi:10.1016/bs.adgen.2020.01.001 · Cited by 18
Margolis, R. L. (2003) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.3.6.715 · Cited by 17
Napoli, E., McLennan, Y. A., Schneider, A., Tassone, F., Hagerman, R. J., & Giulivi, C. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.578640 · Cited by 16
Self-citationFay-Karmon, T., & Hassin‐Baer, S. (2019) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2019.05.010 · Cited by 15
Anhedonia and Hyperhedonia in Autism and Related Neurodevelopmental Disorders
Dichter, G. S., & Rodríguez-Romaguera, J. (2022) · Current topics in behavioral neurosciences · doi:10.1007/7854_2022_312 · Cited by 16
McKinney, W. S., Bartolotti, J., Khemani, P., Wang, J. Y., Hagerman, R. J., & Mosconi, M. W. (2020) · NeuroImage Clinical · doi:10.1016/j.nicl.2020.102332 · Cited by 12
Self-citationScreening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia
Martorell, L., Tondo, M., Garcia-Fructuoso, F. J., Naudó, M., Alegre, C., Gámez, J., Genovès, J., & Póo, P. (2012) · Clinical Rheumatology · doi:10.1007/s10067-012-2052-y · Cited by 10
Trost, N. M., Cook, M. J., Hammersley, E., Bui, M., Brotchie, P., Burgess, T., Slater, H. R., Storey, E., & Loesch, D. Z. (2013) · Neurodegenerative Diseases · doi:10.1159/000356190 · Cited by 9
O’Keefe, J. A., Bang, D., Robertson, E. E., Biskis, A., Ouyang, B., Liu, Y., Pal, G. D., Berry‐Kravis, E., & Hall, D. A. (2020) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.13045 · Cited by 7
Self-citationTremblement postural et ataxie révélant une prémutation X fragile ou syndrome FXTAS
Davous, P., Morales, R. J., Dupel-Pottier, C., & Bertolle, E. (2007) · Revue Neurologique · doi:10.1016/s0035-3787(07)74182-6 · Cited by 7
Robertson, E. E., Hall, D. A., Pal, G. D., Ouyang, B., Liu, Y., Joyce, J. M., Berry‐Kravis, E., & O’Keefe, J. A. (2020) · Clinical Parkinsonism & Related Disorders · doi:10.1016/j.prdoa.2020.100040 · Cited by 6
Self-citationFahn, S., Jankovic, J. J., Hallett, M., & Jenner, P. G. (2007) · Elsevier eBooks · doi:10.1016/b978-0-443-07941-2.50022-x · Cited by 5
Usdin, K. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50040-5 · Cited by 4
Fragile X Syndrome and Fragile X-Associated Tremor/Ataxia Syndrome
Hagerman, R. J., & Hagerman, P. J. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50011-9 · Cited by 4
Self-citationManifestaciones neurológicas en el adulto con premutación X frágil
Truffino, J. C. (2010) · Neurología · doi:10.1016/j.nrl.2010.01.001 · Cited by 2
Case report: Dystonia in a fragile X carrier
Zhang, L., Sukharev, D., Schneider, A., Olichney, J., Seritan, A. L., & Hagerman, R. J. (2011) · Movement Disorders · doi:10.1002/mds.23600 · Cited by 3
Self-citationAtaxie cérébelleuse tardive due à la prémutation de l’X fragile
Chaussenot, A., Borg, M., Bayreuther, C., & Lebrun‐Frénay, C. (2008) · Revue Neurologique · doi:10.1016/j.neurol.2008.03.022 · Cited by 3
Differential Diagnosis and Clinical Characteristics of Essential Tremor
Elble, R. J. (2005) · Neurological disease and therapy · doi:10.1201/b14115-8 · Cited by 3
Fragile X-Associated Tremor Ataxia/Syndrome
Bronsky, H. E., Coffey, S. M., & Hagerman, R. J. (2009) · Elsevier eBooks · doi:10.1016/b978-008045046-9.01518-7 · Cited by 3
Self-citationDischler, A. M., Avvaru, A. K., Lopez-Ignacio, S., Lau, C., Breuss, M. W., Martínez‐Cerdeño, V., Dashnow, H., & Dias, C. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.07.678589 · Cited by 3
Genotype/Phenotype Relationships in FXTAS
Allen, E. G., Leehey, M. A., Tassone, F., & Sherman, S. L. (2016) · Springer eBooks · doi:10.1007/978-3-319-33898-9_7 · Cited by 2
Self-citationFahn, S., Jankovic, J. J., & Hallett, M. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-2369-4.00018-4 · Cited by 2
From genes to brain to behavior: the case of fragile X syndrome
Rivera, S. M., & Reiss, A. L. (2009) · Cambridge University Press eBooks · doi:10.1017/cbo9780511757402.017 · Cited by 2
Genotype/Phenotype Relationships in FXTAS
Allen, E. G., Leehey, M. A., Tassone, F., & Sherman, S. L. (2010) · Springer eBooks · doi:10.1007/978-1-4419-5805-1_7 · Cited by 2
Self-citationProgression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference
Morrison, D. E., Ponzini, M. D., Santos, E. R., Biag, H. M. B., Espinal, G. M., Tassone, F., Rivera, S. M., Hessl, D. R., Schneider, A., Bourgeois, J. A., et al. (2025) · Brain Communications · doi:10.1093/braincomms/fcaf483 · Cited by 1
Self-citationPath to understanding the pathophysiology of Fragile X syndrome
Mulle, J. G., Peñagarikano, O., & Warren, S. T. (2007) · Future Neurology · doi:10.2217/14796708.2.5.567 · Cited by 1
Fragile X syndrome: an overview
Bambang, K. N., Metcalfe, K., Newman, W. G., & McFarlane, T. (2011) · The Obstetrician & Gynaecologist · doi:10.1576/toag.13.2.92.27652 · Cited by 1
Botucatu, D., Doutorado, T. D., Cromossomo, S. D., Rodrigueiro, D. A., Moretti‐Ferreira, D., de Jesús, M., & de Souza, D. H. (2006) · Cited by 1
Manto, M. U. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511750557.025
Variabilidade do domínio KH-2 da proteína do retardo mental do X frágil (FMRP)
Velloso, F. J. (2013) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2013.tde-21032014-090729
Neurological signs in the adult with fragile-X premutation
Truffino, J. C. (2010) · Neurología (English Edition) · doi:10.1016/s2173-5808(10)70045-6
The Molecular Biology of FXTAS
Tassone, F., & Hagerman, P. J. (2010) · Springer eBooks · doi:10.1007/978-1-4419-5805-1_6
Self-citationBrouwer, J. R. (2008) · RePub (Erasmus University Rotterdam)
The Many Faces of Parkinsonism
Schneider, S. A., & Klein, C. (2013) · Oxford University Press eBooks · doi:10.1093/med/9780199609536.003.0012
The Molecular Biology of Premutation Expanded Alleles
Tassone, F., Sellier, C., Charlet‐Berguerand, N., & Todd, P. K. (2016) · Springer eBooks · doi:10.1007/978-3-319-33898-9_6
Molecular Correlates of Fragile X Syndrome and FXTAS
Tassone, F., & Hagerman, P. J. (2007) · Springer eBooks · doi:10.1007/3-540-33336-3_2
Self-citation
Metadata
- Authors
- Berry‐Kravis, E., Lewin, F., Wuu, J., Leehey, M., Hagerman, R., Hagerman, P., & Goetz, C. G.
- Affiliations
- Rush University Medical Center (US)
- University of California Davis Medical Center (US)
- Corresponding author
- Berry‐Kravis, Elizabeth
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2003-03-28
- Volume
- 53
- Issue
- 5
- Pages
- 616-623
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2059514979
- Cited by
- 109
- References
- 33
- Citations by year
- 2026: 1 · 2025: 3 · 2022: 1 · 2021: 4 · 2020: 6 · 2019: 3 · 2016: 3 · 2014: 4 · 2013: 5 · 2012: 5
- FWCI
- 6.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS043532, NS 43532)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Clinical Neurology › Deep Brain Stimulation and Movement Disorders
- Keywords
- fragile X premutation, FMR1 gene, action tremor, ataxia, parkinsonian signs, gait disturbance, CGG repeat expansion, FMR1 mRNA, sex differences, male carriers
- MeSH terms
- Aged, Ataxia, Atrophy, Central Nervous System, DNA Mutational Analysis, Female, Fragile X Syndrome, Heterozygote, Humans, Male, Middle Aged, RNA, Messenger, Tremor, Videotape Recording, Point Mutation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
