Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

The Metabolic and Molecular Bases of Inherited Disease

Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science · doi:10.1126/science.252.5009.1097 · Cited by 1,499

Fragile X Genotype Characterized by an Unstable Region of DNA

Yu, S., Pritchard, M. A., Kremer, E. J., Lynch, M., Nancarrow, J. K., Baker, E. G., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., et al. (1991) · Science · doi:10.1126/science.252.5009.1179 · Cited by 793

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Rousseau, F., Heitz, D., Biancalana, V., Blumenfeld, S., Kretz, C., Boué, J., Tommerup, N., Hagen, C. V. D., DeLozier-Blanchet, C. D., Croquette, M., et al. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112123252401 · Cited by 643

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Eichler, E. E., Holden, J. J. A., Popovich, B. W., Reiss, A. L., Snow, K., Thibodeau, S. N., Richards, C. S., Ward, P. A., & Nelson, D. L. (1994) · Nature Genetics · doi:10.1038/ng0994-88 · Cited by 481

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles

Kunst, C. B. (1994) · Cell · doi:10.1016/0092-8674(94)90134-1 · Cited by 363

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

Rousseau, F., Rouillard, P., Morel, M. L., Khandjian, E. W., & Morgan, K. (1995) · Europe PMC (PubMed Central) · Cited by 361

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

Rousseau, F., Heitz, D., Tarleton, J. C., MacPherson, J., Malmgren, H., Dahl, N., Barnicoat, A. J., Mathew, C. G., Mornet, É., & Tejada, I. (1994) · PubMed Central · Cited by 291

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

Jacquemont, S., Hagerman, R. J., Leehey, M. A., Grigsby, J., Zhang, L., Brunberg, J. A., Greco, C., Portes, V. D., Jardini, T., Levine, R. A., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/374321 · Cited by 761

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

Advances in the Treatment of Fragile X Syndrome

Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., et al. (2009) · Pediatrics · doi:10.1542/peds.2008-0317 · Cited by 596

Comparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes

Richard, G., Kerrest, A., & Dujon, B. (2008) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00011-08 · Cited by 590

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

The 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

Epidemiology of fragile X syndrome: A systematic review and meta‐analysis

Hunter, J. E., Rivero‐Arias, O., Angelov, A., Kim, E., Fotheringham, I., & Leal, J. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36511 · Cited by 464

A superfolding Spinach2 reveals the dynamic nature of trinucleotide repeat–containing RNA

Strack, R. L., Disney, M. D., & Jaffrey, S. R. (2013) · Nature Methods · doi:10.1038/nmeth.2701 · Cited by 402

Protein 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

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

Tassone, F., Pan, R., Amiri, K. M. A., Taylor, A. K., & Hagerman, P. J. (2007) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2008.070073 · Cited by 350

The fragile X prevalence paradox

Hagerman, P. J. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059055 · Cited by 354

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321

Fragile 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

Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder in Boys with the Fragile X Premutation

FARZIN, F., PERRY, H., HESSL, D., LOESCH, D., COHEN, J., BACALMAN, S., GANE, L., TASSONE, F., HAGERMAN, P., & HAGERMAN, R. (2006) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200604002-00012 · Cited by 325

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

Rodríguez‐Revenga, L., Madrigal, I., Pagonabarraga, J., Xunclà, M., Bádenas, C., Kulisevsky, J., Gómez‐Ansón, B., & Milà, M. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.51 · Cited by 324

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

Tassone, F., Iong, K. P., Tong, T., Lo, J., Gane, L. W., Berry‐Kravis, E., Nguyen, D. V., Mu, L. Y., Laffin, J. J. S., Bailey, D. B., et al. (2012) · Genome Medicine · doi:10.1186/gm401 · Cited by 321

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1

Jacquemont, S., Hagerman, R. J., Hagerman, P. J., & Leehey, M. A. (2006) · The Lancet Neurology · doi:10.1016/s1474-4422(06)70676-7 · Cited by 281

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

Willemsen, R. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg114 · Cited by 267

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals

Ladd, P. D., Smith, L. E., Rabaia, N. A., Moore, J. M., Georges, S. A., Hansen, R. S., Hagerman, R. J., Tassone, F., Tapscott, S. J., & Filippova, G. N. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm293 · Cited by 248

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

Abnormal elevation ofFMR1mRNA is associated with psychological symptoms in individuals with the fragile X premutation

Hessl, 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

Fragile 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

Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population

Fernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. J., & Tassone, F. (2009) · The Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2009.080173 · Cited by 204

Population history and its impact on medical genetics in Quebec

Laberge, A., Michaud, J. L., Richter, A. M., Lemyre, E., Lambert, M. A., Brais, B., & Mitchell, G. A. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00497.x · Cited by 201

Lessons 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

ElevatedFMR1mRNA in premutation carriers is due to increased transcription

Tassone, F., Beilina, A. G., Carosi, C., Albertosi, S., Bagni, C., Li, L., Glover-Cutter, K. M., Bentley, D. L., & Hagerman, P. J. (2007) · RNA · doi:10.1261/rna.280807 · Cited by 199

Prevalence of CGG expansions of the FMR1 gene in a US population‐based sample

Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M. J., Greenberg, J. S., & Mandel, D. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32065 · Cited by 191

Lifetime Prevalence of Mood and Anxiety Disorders in Fragile X Premutation Carriers

Bourgeois, J. A., Seritan, A. L., Casillas, E. M., Hessl, D. R., Schneider, A., Yang, Y., Kaur, I., Cogswell, J. B., Nguyen, D. V., & Hagerman, R. J. (2010) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.09m05407blu · Cited by 191

Fragile X: Leading the Way for Targeted Treatments in Autism

Wang, L. W., Berry-Kravis, E., & Hagerman, R. J. (2010) · Neurotherapeutics · doi:10.1016/j.nurt.2010.05.005 · Cited by 176

Fragile 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

ADHD symptoms in children with FXS

Sullivan, K., Hatton, D., Hammer, J., Sideris, J., Hooper, S., Ornstein, P., & Bailey, D. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31388 · Cited by 174

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)

Adams, J. S., Adams, P. E., Nguyen, D. V., Brunberg, J. A., Tassone, F., Zhang, W., Koldewyn, K., Rivera, S. M., Grigsby, J., Zhang, L., et al. (2007) · Neurology · doi:10.1212/01.wnl.0000269781.10417.7b · Cited by 172

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Monaghan, K. G., Lyon, E., & Spector, E. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.61 · Cited by 173

Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations

Fernandez-Carvajal, I., Lopez Posadas, B., Pan, R., Raske, C., Hagerman, P. J., & Tassone, F. (2009) · The Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2009.080174 · Cited by 164

A Review of Fragile X Premutation Disorders

Bourgeois, J. A., Coffey, S. M., Rivera, S. M., Hessl, D. R., Gane, L. W., Tassone, F., Greco, C., Finucane, B. M., Nelson, L. M., Berry‐Kravis, E., et al. (2009) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.08m04476 · Cited by 167

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

Hagerman, P. J. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1138-1 · Cited by 167

The fragile X continuum: new advances and perspectives

Cornish, K. M., Turk, J., & Hagerman, R. J. (2008) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2008.01056.x · Cited by 168

CGG repeat length correlates with age of onset of motor signs of the fragile X‐associated tremor/ataxia syndrome (FXTAS)

Tassone, F., Adams, J., Berry‐Kravis, E., Cohen, S., Brusco, A., Leehey, M. A., Li, L., Hagerman, R. J., & Hagerman, P. J. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30482 · Cited by 162

A neuropsychological investigation of male premutation carriers of fragile X syndrome

Moore, C. J., Daly, E., Schmitz, N., Tassone, F., Tysoe, C. J., Hagerman, R. J., Hagerman, P. J., Morris, R. G., Murphy, K. C., & Murphy, D. (2004) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2004.05.002 · Cited by 159

The 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

Age-dependent cognitive changes in carriers of the fragile X syndrome

Cornish, K. M., Li, L., Kogan, C. S., Jacquemont, S., Turk, J., Dalton, A., Hagerman, R. J., & Hagerman, P. J. (2007) · Cortex · doi:10.1016/j.cortex.2006.11.002 · Cited by 137

Fragile X syndrome: An overview and update of the FMR1 gene

Milà, M., Álvarez‐Mora, M. I., Madrigal, I., & Rodríguez‐Revenga, L. (2017) · Clinical Genetics · doi:10.1111/cge.13075 · Cited by 136

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

Hagerman, R. J. (2008) · Clinical Interventions in Aging · doi:10.2147/cia.s1794 · Cited by 133

Amygdala dysfunction in men with the fragile X premutation

Hessl, D. R., Rivera, S. M., Koldewyn, K., Cordeiro, L., Adams, J., Tassone, F., Hagerman, P. J., & Hagerman, R. J. (2006) · Brain · doi:10.1093/brain/awl338 · Cited by 128

A fragile balance: FMR1 expression levels

Oostra, B. A., & Willemsen, R. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg298 · Cited by 130

Of Men and Mice: Modeling the Fragile X Syndrome

Dahlhaus, R. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00041 · Cited by 133

The behavioral phenotype of FMR1 mutations

Boyle, L., & Kaufmann, W. E. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30277 · Cited by 118

Recent 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

Autistic Spectrum Disorder and the Fragile X Premutation

Goodlin‐Jones, B. L., Tassone, F., Gane, L. W., & Hagerman, R. J. (2004) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200412000-00002 · Cited by 115

Size bias of fragile X premutation alleles in late-onset movement disorders

Jacquemont, S., Leehey, M. A., Hagerman, R. J., Beckett, L. A., & Hagerman, P. J. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.042374 · Cited by 116

The FMR1 gene and fragile X‐associated tremor/ataxia syndrome

Brouwer, J. R., Willemsen, R., & Oostra, B. A. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30910 · Cited by 114

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder

Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J. (2012) · Human Genetics · doi:10.1007/s00439-011-1106-6 · Cited by 109

Tremor and ataxia in fragile X premutation carriers: Blinded videotape study

Berry‐Kravis, E., Lewin, F., Wuu, J., Leehey, M., Hagerman, R., Hagerman, P., & Goetz, C. G. (2003) · Annals of Neurology · doi:10.1002/ana.10522 · Cited by 109

Fragile X-associated disorders: a clinical overview

Gallagher, A. T., & Hallahan, B. P. (2011) · Journal of Neurology · doi:10.1007/s00415-011-6161-3 · Cited by 116

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

Kamm, 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

Lifespan changes in working memory in fragile X premutation males

Cornish, K. M., Kogan, C. S., Li, L., Turk, J., Jacquemont, S., & Hagerman, R. J. (2008) · Brain and Cognition · doi:10.1016/j.bandc.2008.11.006 · Cited by 104

RAN translation—What makes it run?

Green, K. M., Linsalata, A. E., & Todd, P. K. (2016) · Brain Research · doi:10.1016/j.brainres.2016.04.003 · Cited by 109

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

Hashem, V. I., Galloway, J. N., Mori, M., Willemsen, R., Oostra, B. A., Paylor, R. E., & Nelson, D. L. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp182 · Cited by 106

The Fragile X Family of Disorders: A Model for Autism and Targeted Treatments

Hagerman, R. J., Rivera, S. M., & Hagerman, P. J. (2008) · Current Pediatric Reviews · doi:10.2174/157339608783565770 · Cited by 101

Testicular and Pituitary Inclusion Formation in Fragile X Associated Tremor/Ataxia Syndrome

Greco, C., Soontrapornchai, K., Wirojanan, J., Gould, J. E., Hagerman, P. J., & Hagerman, R. J. (2007) · The Journal of Urology · doi:10.1016/j.juro.2006.11.097 · Cited by 99

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

Sevin, M., Kutalik, Z., Bergman, S., Vercelletto, M., Renou, P., Lamy, E., Vingerhoets, F. J. G., Virgilio, G. D., Boisseau, P., Bezieau, S., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.065953 · Cited by 99

Decreased Fragile X Mental Retardation Protein Expression Underlies Amygdala Dysfunction in Carriers of the Fragile X Premutation

Hessl, D. R., Wang, J. M., Schneider, A., Koldewyn, K., Le, L., Iwahashi, C., Cheung, K., Tassone, F., Hagerman, P. J., & Rivera, S. M. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.05.033 · Cited by 97

A Simple, High-Throughput Assay for Fragile X Expanded Alleles Using Triple Repeat Primed PCR and Capillary Electrophoresis

Lyon, E., Laver, T. A., Yu, P., Jama, M., Young, K., Zoccoli, M. A., & Marlowe, N. (2010) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2010.090229 · Cited by 95

Fragile X carrier screening and FMR1 allele distribution in the Japanese population

Otsuka, S., Sakamoto, Y., Siomi, H., Itakura, M., Yamamoto, K., Matumoto, H., Sasaki, T., Kato, N., & Nanba, E. (2009) · Brain and Development · doi:10.1016/j.braindev.2008.12.015 · Cited by 95

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats

Напиерала, М. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki186 · Cited by 93

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

Brussino, A., Gellera, C., Saluto, A., Mariotti, C., Arduino, C., Castellotti, B., Camerlingo, M., Angelis, V. D., Orsi, L., Tosca, P., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000148723.37489.3f · Cited by 90

Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism

Losh, M. C., Klusek, J., Martin, G. E., Sideris, J. H., Parlier, M., & Piven, J. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32070 · Cited by 89

FMR1 premutation and full mutation molecular mechanisms related to autism

Hagerman, R., Au, J., & Hagerman, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9084-5 · Cited by 85

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

Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical–pathological study

Louis, E. D., Moskowitz, C. B., Friez, M. J., Amaya, M. D. P., & Vonsattel, J. P. (2005) · Movement Disorders · doi:10.1002/mds.20753 · Cited by 80

RNA-binding proteins in neurological diseases

Zhou, H.-L., Mangelsdorf, M., Liu, J., Zhu, L., & Wu, J. Y. (2014) · Science China Life Sciences · doi:10.1007/s11427-014-4647-9 · Cited by 82

Perampanel, an AMPA antagonist, found to have no benefit in reducing “off” time in Parkinson's disease

Lees, A. J., Fahn, S., Eggert, K. M., Jankovic, J. J., Lang, A. E., Micheli, F. E., Mouradian, M. M., Oertel, W. H., Olanow, C. W., Poewe, W. H., et al. (2011) · Movement Disorders · doi:10.1002/mds.23983 · Cited by 81

Epidemiology and population genetics of degenerative ataxias

Sequeiros, J., Martins, S., & Silveira, I. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-51892-7.00014-0 · Cited by 78

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

Sobczak, K., & Krzyzosiak, W. (2004) · Human Mutation · doi:10.1002/humu.20075 · Cited by 71

Fragile X–associated tremor ataxia syndrome in FMR1 gray zone allele carriers

Hall, D. A., Tassone, F., Klepitskaya, O., & Leehey, M. A. (2011) · Movement Disorders · doi:10.1002/mds.24021 · Cited by 76

Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders

McConkie‐Rosell, A., Abrams, L. J., Finucane, B. M., Cronister, A., Gane, L. W., Coffey, S. M., Sherman, S. L., Nelson, L. M., Berry‐Kravis, E., Hessl, D. R., et al. (2007) · Journal of Genetic Counseling · doi:10.1007/s10897-007-9099-y · Cited by 74

The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy

Moore, C. J. (2004) · Brain · doi:10.1093/brain/awh256 · Cited by 75

Screen for Excess FMR1 Premutation Alleles Among Males With Parkinsonism

Kraff, J., Tang, H.-T., Cilia, R., Canesi, M., Pezzoli, G., Goldwurm, S., Hagerman, P. J., & Tassone, F. (2007) · Archives of Neurology · doi:10.1001/archneur.64.7.1002 · Cited by 75

Epigenetics of fragile X syndrome and fragile X‐related disorders

Kraan, C. M., Godler, D. E., & Amor, D. J. (2018) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.13985 · Cited by 74

Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions

Ciesiołka, A., Jazurek, M., Drążkowska, K., & Krzyżosiak, W. J. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00097 · Cited by 74

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Finucane, B. M., Abrams, L. J., Cronister, A., Archibald, A. D., Bennett, R. L., & McConkie‐Rosell, A. (2012) · Journal of Genetic Counseling · doi:10.1007/s10897-012-9524-8 · Cited by 77

FMR1 CGG expansions: Prevalence and sex ratios

Maenner, M. J., Baker, M. W., Broman, K. W., Tian, J., Fedler, J. K., Atkins, A. E., McPherson, E. W., Hong, J., Brilliant, M. H., & Seltzer, M. M. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32176 · Cited by 76

Fragile X–Associated Tremor/Ataxia Syndrome

Amiri, K. M. A., Hagerman, R. J., & Hagerman, P. J. (2008) · Archives of Neurology · doi:10.1001/archneurol.2007.30 · Cited by 73

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre‐mutation: FXTAS and beyond

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

Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes

Musumeci, S. A., Calabrese, G., Bonaccorso, C. M., D'Antoni, S., Brouwer, J. R., Bakker, C. E., Elia, M., Ferri, R., Nelson, D. L., Oostra, B. A., et al. (2007) · Experimental Neurology · doi:10.1016/j.expneurol.2006.08.007 · Cited by 70

Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X‐associated Tremor/Ataxia syndrome: A controlled study

Kogan, C. S., Turk, J., Hagerman, R. J., & Cornish, K. M. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30685 · Cited by 69

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

Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome

Koukoui, S., & Chaudhuri, A. (2006) · Brain Research Reviews · doi:10.1016/j.brainresrev.2006.06.001 · Cited by 65

Neuropathy as a presenting feature in fragile X‐associated tremor/ataxia syndrome

Hagerman, R. J., Coffey, S. M., Maselli, R. A., Soontarapornchai, K., Brunberg, J. A., Leehey, M. A., Zhang, L., Gane, L. W., Fenton, G., Tassone, F., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31920 · Cited by 64

Paternally Transmitted FMR1 Alleles Are Less Stable than Maternally Transmitted Alleles in the Common and Intermediate Size Range

Sullivan, A. K., Crawford, D. C., Scott, E., Leslie, M., & Sherman, S. L. (2002) · The American Journal of Human Genetics · doi:10.1086/340846 · Cited by 63

Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome

Kiliszek, A., Kierzek, R., Krzyżosiak, W. J., & Rypniewski, W. R. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr368 · Cited by 69

Chromosomal disorders associated with epilepsy

Battaglia, A., & Guerrini, R. (2005) · Epileptic Disorders · doi:10.1684/j.1950-6945.2005.tb00120.x · Cited by 60

Fragile X-associated tremor/ataxia syndrome—an older face of the fragile X gene

Hagerman, P. J., & Hagerman, R. J. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0373 · Cited by 60

Screen for expanded FMR1 alleles in patients with essential tremor

Garcia-Arocena, D., Louis, E. D., Tassone, F., Gilliam, T. C., Ottman, R., Jacquemont, S., & Hagerman, P. J. (2004) · Movement Disorders · doi:10.1002/mds.20043 · Cited by 59

Prevalence of theFMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype

Tzeng, C., Tsai, L., Hwu, W., Lin, S., Chao, M., Jong, Y., Chu, S., Chao, W.-C., & Lu, C. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30528 · Cited by 58

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Spector, E., Behlmann, A., Kronquist, K. E., Rose, N. C., Lyon, E., & Reddi, H. V. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01115-y · Cited by 60

Incidence of Fragile X in 5,000 Consecutive Newborn Males

Rife, M. F., Bádenas, C., Mallolas, J., Jiménez, L., Cervera, R., Maya, A. C. L., Glover, G., Rivera, F., & Milà, M. (2003) · Genetic Testing · doi:10.1089/109065703322783725 · Cited by 56

Evidence for RNA-Mediated Toxicity in the Fragile X-Associated Tremor/Ataxia Syndrome

Galloway, J. N., & Nelson, D. L. (2009) · Future Neurology · doi:10.2217/fnl.09.44 · Cited by 54

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

Khaniani, M. S., Kalitsis, P., Burgess, T., & Slater, H. R. (2008) · Molecular Cytogenetics · doi:10.1186/1755-8166-1-5 · Cited by 55

Parkinsonism, FXTAS, and FMR1 premutations

Toft, M., Aasly, J. O., Bisceglio, G. D., Adler, C. H., Uitti, R. J., Krygowska‐Wajs, A., Lynch, T., Wszołek, Z. K., & Farrer, M. J. (2004) · Movement Disorders · doi:10.1002/mds.20297 · Cited by 54

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

Rousseau, F., Rouillard, P., Morel, M. L., Khandjian, E. W., & Morgan, K. (1995) · Europe PMC (PubMed Central) · Cited by 361

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population

Lévesque, S., Dombrowski, C., Morel, M., Réhel, R., Côté, J., Bussières, J., Morgan, K., & Rousseau, F. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01237.x · Cited by 44

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions

Yrigollen, C. M., Mendoza‐Morales, G., Hagerman, R. J., & Tassone, F. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.50 · Cited by 11

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome

Eichler, E. E. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.3.319 · Cited by 103

Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population

Capelli, L. P., Mingroni‐Netto, R. C., & Vianna‐Morgante, A. M. (2005) · Genetics and Molecular Biology · doi:10.1590/s1415-47572005000100002 · Cited by 6