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European Journal of Neurology|August 14, 2023
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxiaPablo Iruzubieta, David Pellerin, Alberto Bergareche, et al.Nature Communications|December 19, 2018
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networksMelanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, et al.American Journal of Human Genetics|January 7, 2014
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaTyphaine Esteves, Alexandra Durr, Emeline Mundwiller, et al.American Journal of Human Genetics|May 11, 2010
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing lossAsli Sirmaci, Seyra Erbek, Justin Price, et al.European Journal of Neurology|November 21, 2020
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathiesZhongbo Chen, Reza Maroofian, A Nazlı Başak, et al.Nature Biotechnology|January 3, 2024
Characterization and visualization of tandem repeats at genome scaleEgor Dolzhenko, Adam English, Harriet Dashnow, et al.BMC Medicine|March 25, 2026
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disordersMehrdad A Estiar, Eric Yu, Parizad Varghaei, et al.Molecular Genetics and Metabolism|December 28, 2014
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesMarni J Falk, Lishuang Shen, Michael Gonzalez, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Neuroradiological findings in GAA-<i>FGF14</i> ataxia (SCA27B): more than cerebellar atrophyShihan Chen, Catherine Ashton, Rawan Sakalla, et al.Brain : a Journal of Neurology|May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signsAdriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.Pageof 15