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Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
Millecamps, Stéphanie, Boillée, Séverine, Le Ber, Isabelle, Seilhean, Danielle, Teyssou, Elisa, Giraudeau, Marine, Moigneu, Carine, Vandenberghe, Nadia, Danel-Brunaud, Véronique, Corcia, Philippe, Pradat, Pierre-François, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaelle, Camu, William, Brice, Alexis, Cazeneuve, Cécile, LeGuern, Eric, Meininger, Vincent, Salachas, François
Published in Journal of medical genetics (01.04.2012)
Published in Journal of medical genetics (01.04.2012)
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Journal Article
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians
Kohli, Martin A., John-Williams, Krista, Rajbhandary, Ruchita, Naj, Adam, Whitehead, Patrice, Hamilton, Kara, Carney, Regina M., Wright, Clinton, Crocco, Elizabeth, Gwirtzman, Harry E., Lang, Rosalyn, Beecham, Gary, Martin, Eden R., Gilbert, John, Benatar, Michael, Small, Gary W., Mash, Deborah, Byrd, Goldie, Haines, Jonathan L., Pericak-Vance, Margaret A., Züchner, Stephan
Published in Neurobiology of aging (01.05.2013)
Published in Neurobiology of aging (01.05.2013)
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Journal Article
Analysis of the C9orf72 gene in spinal muscular atrophy patients
Alías, Laura, Bernal, Sara, Barceló, Maria J., Martínez-Hernández, Rebeca, Martínez, Elisabeth, Baiget, Montserrat, Tizzano, Eduardo F.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.12.2014)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.12.2014)
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Journal Article
The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10
Hasan, Ali, Furtado, Gabriel Vasata, Miglorini, Elaine, Mergener, Rafaella, Massuyama, Breno, Barsottini, Orlando, Pedroso, José Luiz, Teive, Helio G., Saraiva-Pereira, Maria Luiza, Ashizawa, Tetsuo, Jardim, Laura Bannach
Published in Journal of neurology (01.04.2025)
Published in Journal of neurology (01.04.2025)
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Journal Article
The genetics of motor neuron disease in New Zealand
Mrkela, Miran, Rodrigues, Miriam, Naidoo, Serey, Devaux, Jules B.L., Kirk, Siobhan E., Vinnakota, Chitra, Buchanan, Christina M., Mulroy, Dympna, Fraser, Harry, Jacobsen, Jessie C., Wyatt, Hannah, Drake, Kylie, Parker, Elsa, Potter, Howard, Henden, Lyndal, McCann, Emily P., Williams, Kelly L., Henders, Anjali K., Roxburgh, Richard H., Scotter, Emma L.
Published in Journal of the neurological sciences (15.07.2025)
Published in Journal of the neurological sciences (15.07.2025)
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Journal Article
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
Yeetong, Patra, Pongpanich, Monnat, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Shotelersuk, Varote, Tantirukdham, Nithiphut, Chunharas, Chaipat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
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Journal Article
Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory
De Siena, Claudia, Cardani, Rosanna, Brigonzi, Elisa, Bosè, Francesca, Fossati, Barbara, Meola, Giovanni, Costa, Elena, Valaperta, Rea
Published in Clinica chimica acta (01.09.2018)
Published in Clinica chimica acta (01.09.2018)
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Journal Article
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort
Tyagi, Nishu, Uppili, Bharathram, Sharma, Pooja, Parveen, Shaista, Saifi, Sheeba, Jain, Abhinav, Sonakar, Akhilesh, Ahmed, Istaq, Sahni, Shweta, Shamim, Uzma, Anand, Avni, Suroliya, Varun, Asokachandran, Vivekanand, Srivastava, Achal, Sivasubbu, Sridhar, Scaria, Vinod, Faruq, Mohammed
Published in Neurogenetics (01.01.2024)
Published in Neurogenetics (01.01.2024)
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Journal Article
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
Aboud Syriani, Dona, Wong, Darice, Andani, Sameer, De Gusmao, Claudio M., Mao, Yuanming, Sanyoura, May, Glotzer, Giacomo, Lockhart, Paul J., Hassin-Baer, Sharon, Khurana, Vikram, Gomez, Christopher M., Perlman, Susan, Das, Soma, Fogel, Brent L.
Published in Neurology. Genetics (01.06.2020)
Published in Neurology. Genetics (01.06.2020)
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Journal Article
Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population
Zeng, Junsheng, Wang, Junling, Zeng, Sheng, He, Miao, Zeng, Xianfeng, Zhou, Yao, Liu, Zhen, Jiang, Hong, Tang, Beisha
Published in Journal of the neurological sciences (15.04.2015)
Published in Journal of the neurological sciences (15.04.2015)
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Journal Article
Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss
Spaans, F, Faber, C G, Smeets, H J M, Hofman, P A M, Braida, C, Monckton, D G, de Die-Smulders, C E M
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2009)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2009)
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Journal Article
Longitudinal Early‐onset Alzheimer’s Disease Study (LEADS) genetic screening: Initial results
Nudelman, Kelly N. H., Abreu, Marco, Eloyan, Ani, Rumbaugh, Malia C., Faber, Kelley M., Wilmes, Kristi, Schwantes‐An, Tae‐Hwi, Rabinovici, Gil D., Carrillo, Maria C., Dickerson, Brad C., Saykin, Andrew J., Wingo, Thomas S., Foroud, Tatiana M., Apostolova, Liana G.
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
F49. DIFFERENTIAL DNA METHYLATION ENABLES ACCURATE PREDICTION FOR C9ORF72 PATHOGENIC REPEAT EXPANSION
Ramesh, Naren, Reus, Lianne, Ophoff, Roel
Published in European neuropsychopharmacology (01.10.2024)
Published in European neuropsychopharmacology (01.10.2024)
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Journal Article
A general method for the detection of large CAG repeat expansions by fluorescent PCR
Warner, J P, Barron, L H, Goudie, D, Kelly, K, Dow, D, Fitzpatrick, D R, Brock, D J
Published in Journal of medical genetics (01.12.1996)
Published in Journal of medical genetics (01.12.1996)
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Journal Article
C9ORF72 repeat expansion is not associated with atypical parkinsonism in the Serbian population
Marjanovic, Ana, Dobricic, Valerija, Jecmenica-Lukic, Milica, Stankovic, Iva, Milicevic, Ognjen, Dragasevic-Miskovic, Natasa, Brankovic, Marija, Jankovic, Milena, Novakovic, Ivana, Svetel, Marina, Stefanova, Elka, Kostic, Vladimir
Published in Genetika (Beograd) (2022)
Published in Genetika (Beograd) (2022)
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Journal Article