ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

Thompson, J. D., Higgins, D. G., & Gibson, T. J. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.22.4673 · Cited by 64,617 · see citing works

Detecting Protein Function and Protein-Protein Interactions from Genome Sequences

Marcotte, E. M., Pellegrini, M., Ng, H.-L., Rice, D. W., Yeates, T. O., & Eisenberg, D. (1999) · Science · doi:10.1126/science.285.5428.751 · Cited by 1,670 · see citing works

A knowledge base for predicting protein localization sites in eukaryotic cells

Nakai, K., & Kanehisa, M. I. (1992) · Genomics · doi:10.1016/s0888-7543(05)80111-9 · Cited by 1,512 · see citing works

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

Kruglyak, L. (1999) · Nature Genetics · doi:10.1038/9642 · Cited by 1,416 · see citing works

The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

Brown, C. J., Hendrich, B., Rupert, J. L., Lafrenière, R. G., Xing, Y., Lawrence, J. B., & Willard, H. F. (1992) · Cell · doi:10.1016/0092-8674(92)90520-m · Cited by 1,310 · see citing works

Identification and Structural Characterization of the ATP/ADP-Binding Site in the Hsp90 Molecular Chaperone

Prodromou, C., Roe, S. M., O’Brien, R., Ladbury, J. E., Piper, P. W., & Pearl, L. H. (1997) · Cell · doi:10.1016/s0092-8674(00)80314-1 · Cited by 1,258 · see citing works

Chaperone-Mediated Protein Folding

Fink, A. L. (1999) · Physiological Reviews · doi:10.1152/physrev.1999.79.2.425 · Cited by 1,055 · see citing works

A Comparison of Linkage Disequilibrium Measures for Fine-Scale Mapping

Devlin, B., & RISCH, N. J. (1995) · Genomics · doi:10.1006/geno.1995.9003 · Cited by 1,044 · see citing works

A new DNA sequence assembly program

Bonfield, J., Smith, K. F., & Staden, R. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.24.4992 · Cited by 978 · see citing works

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1

Cummings, C. J., Mancini, M. A., Antalffy, B. A., DeFranco, D. B., Orr, H. T., & Zoghbi, H. Y. (1998) · Nature Genetics · doi:10.1038/502 · Cited by 744 · see citing works

Hsp90 & Co. – a holding for folding

Büchner, J. (1999) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(99)01373-0 · Cited by 625 · see citing works

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

Hästbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A., & Lander, E. (1992) · Nature Genetics · doi:10.1038/ng1192-204 · Cited by 558 · see citing works

BCM Search Launcher--an integrated interface to molecular biology data base search and analysis services available on the World Wide Web.Preprint

Smith, R. F., Wiese, B. A., Wojzynski, M. K., Davison, D. B., & Worley, K. C. (1996) · Genome Research · doi:10.1101/gr.6.5.454 · Cited by 332 · see citing works

Phylogenetic analysis of the 90 kD heat shock family of protein sequences and an examination of the relationship among animals, plants, and fungi species.

Gupta, R. S. (1995) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040281 · Cited by 316 · see citing works

Genome analysis : a laboratory manual

Green, E. D. (1997) · Cited by 248 · see citing works

Linkage disequilibrium mapping in isolated populations: The example of Finland revisited

de la Chapelle, A., & Wright, F. A. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.21.12416 · Cited by 243 · see citing works

Role of the Protein Chaperone YDJ1 in Establishing Hsp90-Mediated Signal Transduction Pathways

Kimura, Y., Yahara, I., & Lindquist, S. L. (1995) · Science · doi:10.1126/science.7761857 · Cited by 228 · see citing works

A First-Generation Whole Genome–Radiation Hybrid Map Spanning the Mouse GenomePreprint

McCarthy, L. C., Terrett, J. A., Davis, M. E., Knights, C., Smith, A. L., Critcher, R., Schmitt, K., Hudson, J., Spurr, N. K., & Goodfellow, P. N. (1997) · Genome Research · doi:10.1101/gr.7.12.1153 · Cited by 176 · see citing works

Human Mucin Gene MUC5B, the 10.7-kb Large Central Exon Encodes Various Alternate Subdomains Resulting in a Super-repeat

Desseyn, J., Guyonnet‐Dupérat, V., Porchet, N., Aubert, J., & Laine, A. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.6.3168 · Cited by 170 · see citing works

The Role of DnaJ-like Proteins in Glucocorticoid Receptor·hsp90 Heterocomplex Assembly by the Reconstituted hsp90·p60·hsp70 Foldosome Complex

Dittmar, K. D., Banach, M., Galigniana, M. D., & Pratt, W. B. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.13.7358 · Cited by 163 · see citing works

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

McNally, E. M., Passos-Bueno, M.-R., Bönnemann, C. G., Vainzof, M., Moreira, E. S., Lidov, H. G. W., Othmane, K. B., Denton, P. H., Vance, J. M., Zatz, M., et al. (1996) · PubMed Central · Cited by 156 · see citing works

Computer programs for multilocus haplotyping of general pedigrees.

Weeks, D. E., Sobel, E. M., O’Connell, J. R., & Lange, K. L. (1995) · PubMed Central · Cited by 151 · see citing works

Prediction of the Coding Sequences of Unidentified Human Genes. XI. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro

Nagase, T. (1998) · DNA Research · doi:10.1093/dnares/5.5.277 · Cited by 148 · see citing works

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

Bouchard, J.-P., Richter, A. M., Mathieu, J., Brunet, D., Hudson, T. J., Morgan, K. W., & Melançon, S. B. (1998) · Neuromuscular Disorders · doi:10.1016/s0960-8966(98)00055-8 · Cited by 141 · see citing works

Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes.

Boehnke, M. (1994) · PubMed · Cited by 118 · see citing works

Radiation hybrid map of the mouse genome

Etten, W. J. V., Steen, R. G., Nguyen, H., Castle, A. B., Slonim, D. K., Ge, B., Nusbaum, C., Schuler, G. D., Lander, E. S., & Hudson, T. J. (1999) · Nature Genetics · doi:10.1038/11962 · Cited by 106 · see citing works

Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population

Austerlitz, F., & Heyer, É. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.25.15140 · Cited by 103 · see citing works

Experiment files and their application during large-scale sequencing projects

Bonfield, J., & Staden, R. (1996) · DNA sequence · doi:10.3109/10425179609010197 · Cited by 101 · see citing works

Allelic disequilibrium and allele frequency distribution as a function of social and demographic history.

Thompson, E. A., & Neel, J. V. (1997) · PubMed · Cited by 98 · see citing works

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Richter, A. M., Rioux, J. D., Bouchard, J.-P., Mercier, J., Mathieu, J., Ge, B., Poirier, J., Julien, D., Gyapay, G., Weissenbach, J., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302274 · Cited by 92 · see citing works

Neuropeptide Y and catecholamine synthesizing enzymes and their mRNAs in rat sympathetic neurons and adrenal glands: Studies on expression, synthesis and axonal transport after pharmacological and experimental manipulations using hybridization techniques and radioimmunoassay

Schalling, M., Franco‐Cereceda, A., Hemsén, A., Dagerlind, Å., Seroogy, K. B., Persson, H., Hökfelt, T. G. M., & Lundberg, J. M. (1991) · Neuroscience · doi:10.1016/0306-4522(91)90365-u · Cited by 68 · see citing works

Disequilibrium Likelihoods for Fine-Scale Mapping of a Rare Allele

Graham, J., & Thompson, E. A. (1998) · The American Journal of Human Genetics · doi:10.1086/302102 · Cited by 61 · see citing works

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS): High-Resolution Physical and Transcript Map of the Candidate Region in Chromosome Region 13q11

Engert, J. C., Doré, C., Mercier, J., Ge, B., Bétard, C., Rioux, J. D., Owen, C., Bérubé, P., Devon, K. L., Birren, B. W., et al. (1999) · Genomics · doi:10.1006/geno.1999.6003 · Cited by 32 · see citing works

One Founder/One Gene Hypothesis in a New Expanding Population: Saguenay (Quebec, Canada)

Heyer, É. (2009) · Human Biology · doi:10.3378/027.081.0613 · Cited by 31 · see citing works

DNA sampling and informed consent.

Knoppers, B. M., & Laberge, C. M. (1989) · PubMed · Cited by 28 · see citing works

Fluorescence-Based Sequencing Directly from Bacterial and P1-Derived Artificial Chromosomes

Boysen, C., Simon, M. I., & Hood, L. (1997) · BioTechniques · doi:10.2144/97236bm01 · Cited by 27 · see citing works

Geographic distribution of 18 autosomal recessive disorders in the French Canadian population of Saguenay-Lac-Saint-Jean, Quebec

Braekeleer, M. D. (1995) · Annals of Human Biology · doi:10.1080/03014469500003772 · Cited by 13 · see citing works

Impact of demographic distribution and population growth rate on haplotypic diversity linked to a disease gene and their consequences for the estimation of recombination rate: Example of a French Canadian population

Austerlitz, F., & Heyer, É. (1999) · Genetic Epidemiology · doi:10.1002/(sici)1098-2272(1999)16:1 · Cited by 11 · see citing works

Disequilibrium fine-mapping of a rare allele via coalescent models of gene ancestry

Graham, J. (1998) · ResearchWorks at the University of Washington (University of Washington) · Cited by 5 · see citing works

A haplotype map of the human genome

The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works

The Biology of Proteostasis in Aging and Disease

Labbadia, J., & Morimoto, R. I. (2015) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060614-033955 · Cited by 1,472 · see citing works

A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration

Lim, J., Hao, T., Shaw, C., Patel, A. J., Szabó, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., et al. (2006) · Cell · doi:10.1016/j.cell.2006.03.032 · Cited by 789 · see citing works

Disturbed mitochondrial dynamics and neurodegenerative disorders

Burté, F., Carelli, V., Chinnery, P. F., & Yu‐Wai‐Man, P. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.228 · Cited by 659 · see citing works

The autosomal recessive cerebellar ataxias.

Anheim, M., Tranchant, C., & Koenig, M. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1006610 · Cited by 356 · see citing works

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

Gros‐Louis, F., Dupré, N., Dion, P. A., Fox, M. A., Laurent, S. B., Verreault, S., Sanes, J. R., Bouchard, J.-P., & Rouleau, G. A. (2006) · Nature Genetics · doi:10.1038/ng1927 · Cited by 347 · see citing works

Neurofilaments: neurobiological foundations for biomarker applications

Gafson, A., Barthélemy, N. R., Bomont, P., Carare, R. O., Durham, H. D., Julien, J., Kühle, J., Leppert, D., Nixon, R. A., Weller, R. O., et al. (2020) · Brain · doi:10.1093/brain/awaa098 · Cited by 327 · see citing works

Roles of molecular chaperones in protein misfolding diseases

Barral, J. M., Broadley, S. A., Schaffar, G., & Hartl, F. U. (2004) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2003.12.010 · Cited by 295 · see citing works

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

Fogel, B. L., & Perlman, S. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70054-6 · Cited by 288 · see citing works

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Stévanin, G., Azzedine, H., Denora, P. S., Boukhris, A., Tazir, M., Lossos, A., Rosa, A. L., Lerer, I., Hamri, A., Alegria, P., et al. (2007) · Brain · doi:10.1093/brain/awm293 · Cited by 257 · see citing works

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Hanein, S., Martin, E., Boukhris, A., Byrne, P. C., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P. S., Fernández, J. C. F., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.03.004 · Cited by 217 · see citing works

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa

Wang, K., Zhang, H., Bloss, C. S., Duvvuri, V, Kaye, W., Schork, N. J., Berrettini, W., Hakonarson, H., & the Price Foundation Collaborative Group (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.107 · Cited by 212 · see citing works

Hereditary spastic paraplegias: an update

Depienne, C., Stévanin, G., Brice, A., & Dürr, A. (2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282f190ba · Cited by 213 · see citing works

Human Genetics: Lessons from Quebec Populations

Scriver, C. R. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.69 · Cited by 204 · see citing works

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 · see citing works

Structure, function, and mechanism of the Hsp90 molecular chaperone

Pearl, L. H., & Prodromou, C. (2001) · Advances in protein chemistry · doi:10.1016/s0065-3233(01)59005-1 · Cited by 199 · see citing works

Autosomal recessive cerebellar ataxias

Palau, F., & Espinós, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-47 · Cited by 198 · see citing works

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

Synofzik, M., & Schüle, R. (2017) · Movement Disorders · doi:10.1002/mds.26944 · Cited by 193 · see citing works

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., et al. (2009) · Neurogenetics · doi:10.1007/s10048-009-0196-y · Cited by 185 · see citing works

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Girard, M., Larivière, R., Parfitt, D. A., Deane, E. C., Gaudet, R., Nossova, N., Blondeau, F., Prenosil, G. A., Vermeulen, E. G. M., Duchen, M. R., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1113166109 · Cited by 184 · see citing works

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

Parfitt, D. A., Michael, G. J., Vermeulen, E. G. M., Prodromou, N. V., Webb, T. R., Gallo, J., Cheetham, M. E., Nicoll, W. S., Blatch, G. L., & Chapple, J. P. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp067 · Cited by 185 · see citing works

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

Klebe, S., Stévanin, G., & Depienne, C. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.02.017 · Cited by 179 · see citing works

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Nemeth, A. H., Kwasniewska, A., Lise, S., Schnekenberg, R. P., Becker, E. B. E., Bera, K. D., Shanks, M. E., Gregory, L., Buck, D., Cader, M. Z., et al. (2013) · Brain · doi:10.1093/brain/awt236 · Cited by 172 · see citing works

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Vermeer, S., Meijer, R. P. P., Pijl, B. J., Timmermans, J., Cruysberg, J. R. M., Bos, M. M., Schelhaas, H. J., van de Warrenburg, B. P. C., Knoers, N. V. A. M., Scheffer, H., et al. (2008) · Neurogenetics · doi:10.1007/s10048-008-0131-7 · Cited by 144 · see citing works

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

Tesson, C., Koht, J. A., & Stévanin, G. (2015) · Human Genetics · doi:10.1007/s00439-015-1536-7 · Cited by 141 · see citing works

DNAJ Proteins in neurodegeneration: essential and protective factors

Zarouchlioti, C., Parfitt, D. A., Li, W., Gittings, L. M., & Cheetham, M. E. (2017) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2016.0534 · Cited by 139 · see citing works

Mutations in SACS cause atypical and late-onset forms of ARSACS

Baets, J., Deconinck, T., Smets, K., Goossens, D., den Bergh, P. Y. K. V., Dahan, K., Schmedding, E., Santens, P., Rašić, V. M., Damme, P. V., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181f4d86c · Cited by 134 · see citing works

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

Beaudin, M., Matilla‐Dueñas, A., Soong, B., Pedroso, J. L., Barsottini, O. G. P., Mitoma, H., Tsuji, S., Schmahmann, J. D., Manto, M. U., Rouleau, G. A., et al. (2019) · The Cerebellum · doi:10.1007/s12311-019-01052-2 · Cited by 128 · see citing works

Friedreich Ataxia

Lynch, D. R., Farmer, J. M., Balcer, L. J., & Wilson, R. B. (2002) · Archives of Neurology · doi:10.1001/archneur.59.5.743 · Cited by 122 · see citing works

Unfolding the role of chaperones and chaperonins in human disease

Slavotinek, A. M., & Biesecker, L. G. (2001) · Trends in Genetics · doi:10.1016/s0168-9525(01)02413-1 · Cited by 119 · see citing works

Barcoding heat shock proteins to human diseases: looking beyond the heat shock response

Kakkar, V., Meister-Broekema, M., Minoia, M., Carra, S., & Kampinga, H. H. (2014) · Disease Models & Mechanisms · doi:10.1242/dmm.014563 · Cited by 116 · see citing works

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

Goizet, C., Boukhris, A., Dürr, A., Beetz, C., Truchetto, J., Tesson, C., Tsaousidou, M. K., Forlani, S., Guyant‐Maréchal, L., Fontaine, B., et al. (2009) · Brain · doi:10.1093/brain/awp073 · Cited by 113 · see citing works

Molecular chaperones and neuronal proteostasis

Smith, H., Li, W., & Cheetham, M. E. (2015) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2015.03.003 · Cited by 107 · see citing works

Autophagic lysosome reformation in health and disease

Nanayakkara, R., Gurung, R., Rodgers, S. J., Eramo, M. J., Ramm, G., Mitchell, C. A., & McGrath, M. J. (2022) · Autophagy · doi:10.1080/15548627.2022.2128019 · Cited by 104 · see citing works

Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia

Euch, G. E., Lalani, I., Amouri, R., Turki, I., Ouahchi, K., Hung, W.-Y., Belal, S., Siddique, T., & Hentati, F. (2003) · Archives of Neurology · doi:10.1001/archneur.60.7.982 · Cited by 106 · see citing works

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

Duquette, A., Roddier, K., McNabb-Baltar, J. Y., Gosselin, I., St‐Denis, A., Dicaire, M., Loisel, L., Labuda, D., Marchand, L., Mathieu, J., et al. (2005) · Annals of Neurology · doi:10.1002/ana.20408 · Cited by 106 · see citing works

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

Shi, Y., Wang, J., Li, J., Ren, H., Guan, W., He, M., Yan, W., Zhou, Y., Hu, Z., Zhang, J., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0081884 · Cited by 102 · see citing works

Neurofilament dynamics and involvement in neurological disorders

Gentil, B. J., Tibshirani, M., & Durham, H. D. (2015) · Cell and Tissue Research · doi:10.1007/s00441-014-2082-7 · Cited by 100 · see citing works

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

Goizet, C., Boukhris, A., Maltête, D., Guyant‐Maréchal, L., Truchetto, J., Mundwiller, E., Hanein, S., Jonveaux, P., Roelens, F., Loureiro, J. L., et al. (2009) · Neurology · doi:10.1212/wnl.0b013e3181bacf59 · Cited by 98 · see citing works

The genetic nomenclature of recessive cerebellar ataxias

Rossi, M., Anheim, M., Dürr, A., Klein, C., Koenig, M., Synofzik, M., Marras, C., van de Warrenburg, B. P. C., & on behalf of the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders (2018) · Movement Disorders · doi:10.1002/mds.27415 · Cited by 94 · see citing works

Recent advances in hereditary spastic paraplegia

Tallaksen, C. M. E., Dürr, A., & Brice, A. (2001) · Current Opinion in Neurology · doi:10.1097/00019052-200108000-00005 · Cited by 92 · see citing works

The Role of HSP70 and Its Co-chaperones in Protein Misfolding, Aggregation and Disease

Duncan, E. J., Cheetham, M. E., Chapple, J. P., & van der Spuy, J. (2014) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-3-319-11731-7_12 · Cited by 91 · see citing works

Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview

Bouhlal, Y., Amouri, R., Euch, G. E., & Hentati, F. (2011) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2011.03.005 · Cited by 89 · see citing works

L INKAGE A NALYSIS IN P SYCHIATRIC D ISORDERS : The Emerging Picture

Sklar, P. B. (2002) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.3.022502.103141 · Cited by 87 · see citing works

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

Sarparanta, J., Jonson, P. H., Kawan, S., & Udd, B. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21041409 · Cited by 84 · see citing works

Microcystin-LR-induced changes of hepatopancreatic transcriptome, intestinal microbiota, and histopathology of freshwater crayfish (Procambarus clarkii)

Zhang, Y., Li, Z., Kholodkevich, S. V., Sharov, A. N., Feng, Y., Ren, N., & Sun, K. (2019) · The Science of The Total Environment · doi:10.1016/j.scitotenv.2019.134549 · Cited by 85 · see citing works

The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers

Bomont, P. (2021) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2020.10.011 · Cited by 84 · see citing works

Sick chaperones and ageing: a perspective

Macario, A. J. L. (2002) · Ageing Research Reviews · doi:10.1016/s1568-1637(01)00005-8 · Cited by 81 · see citing works

Reviewing the genetic causes of spastic-ataxias

de Bot, S. T., Willemsen, M. A. A. P., Vermeer, S., Kremer, H. P. H., & van de Warrenburg, B. P. C. (2012) · Neurology · doi:10.1212/wnl.0b013e31826d5fb0 · Cited by 80 · see citing works

A novel mutation in SACS gene in a family from southern Italy

Criscuolo, C., Banfi, S., Orio, M., Gasparini, P., Monticelli, A., Scarano, V., Santorelli, F. M., Perretti, A., Santoro, L., Michele, G. D., et al. (2004) · Neurology · doi:10.1212/wnl.62.1.100 · Cited by 79 · see citing works

Proteostasis regulation by the ubiquitin system

Bett, J. S. (2016) · Essays in Biochemistry · doi:10.1042/ebc20160001 · Cited by 78 · see citing works

Identification of a SACS gene missense mutation in ARSACS

Ogawa, T., Takiyama, Y., Sakoe, K., Mori, K., Namekawa, M., Shimazaki, H., Nakano, I., & Nishizawa, M. (2004) · Neurology · doi:10.1212/01.wnl.0000099371.14478.73 · Cited by 78 · see citing works

Epidemiology and population genetics of degenerative ataxias.

Sequeiros, J., Martins, S., & Silveira, I. (2012) · Handbook of Clinical Neurology · doi:10.1016/b978-0-444-51892-7.00014-0 · Cited by 74 · see citing works

An overview of the patient with ataxia

Mariotti, C., Fancellu, R., & Donato, S. D. (2005) · Journal of Neurology · doi:10.1007/s00415-005-0814-z · Cited by 76 · see citing works

Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a German neuromuscular center population

Gess, B., Schirmacher, A., Boentert, M., & Young, P. (2013) · Neuromuscular Disorders · doi:10.1016/j.nmd.2013.05.005 · Cited by 75 · see citing works

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of C harlevoix– S aguenay

Pilliod, J., Moutton, S., Lavie, J., Maurat, É., Hubert, C., Bellancé, N., Anheim, M., Forlani, S., Mochel, F., Nguyen, K., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24509 · Cited by 75 · see citing works

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

Blumen, S. C., Astord, S., Robín, V., Vignaud, L., Nawel, T., Cieslik, A., Achiron, A., Carasso, R. L., Gurevich, M., Braverman, I., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22684 · Cited by 74 · see citing works

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23

Bomont, P., Watanabe, M., Gershoni-Barush, R., Shizuka, M., Tanaka, M., Sugano, J., Guiraud-Chaumeil, C., & Koenig, M. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200586 · Cited by 74 · see citing works

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of C harlevoix‐ S aguenay. A comprehensive study of an I talian series

Prodi, E., Grisoli, M., Panzeri, M., Minati, L., Fattori, F., Erbetta, A., Uziel, G., D’Arrigo, S., Tessa, A., Ciano, C., et al. (2012) · European Journal of Neurology · doi:10.1111/j.1468-1331.2012.03815.x · Cited by 73 · see citing works

Normal Development and Fertility of Knockout Mice Lacking the Tumor Suppressor Gene LRP1b Suggest Functional Compensation by LRP1

Marschang, P., Brich, J., Weeber, E. J., Sweatt, J. D., Shelton, J. M., Richardson, J. A., Hammer, R. E., & Herz, J. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.9.3782-3793.2004 · Cited by 73 · see citing works

Systematic review of autosomal recessive ataxias and proposal for a classification

Beaudin, M., Klein, C. J., Rouleau, G. A., & Dupré, N. (2017) · Cerebellum & Ataxias · doi:10.1186/s40673-017-0061-y · Cited by 71 · see citing works

A moderate increase in ambient temperature modulates the Atlantic cod (Gadus morhua) spleen transcriptome response to intraperitoneal viral mimic injection

Hori, T. S. F., Gamperl, A. K., Booman, M., Nash, G. W., & Rise, M. L. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-431 · Cited by 72 · see citing works

Potential genomic determinants of hyperthermophily

Makarova, K. S., Wolf, Y. I., & Koonin, E. V. (2003) · Trends in Genetics · doi:10.1016/s0168-9525(03)00047-7 · Cited by 72 · see citing works

The Sacsin Repeating Region (SRR): A Novel Hsp90-Related Supra-Domain Associated with Neurodegeneration

Anderson, J. F., Siller, E., & Barral, J. M. (2010) · Journal of Molecular Biology · doi:10.1016/j.jmb.2010.05.023 · Cited by 71 · see citing works

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

Grieco, G., Malandrini, A., Comanducci, G., Leuzzi, V., Valoppi, M., Tessa, A., Palmeri, S., Benedetti, L., Pierallini, A., Gambelli, S., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000104491.66816.77 · Cited by 70 · see citing works

HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins

Grynberg, M., Erlandsen, H., & Godzik, A. (2003) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(03)00060-4 · Cited by 69 · see citing works

The Cerebellum, Cerebellar Disorders, and Cerebellar Research—Two Centuries of Discoveries

Manto, M. (2008) · Cerebellum · doi:10.1007/s12311-008-0063-7 · Cited by 74 · see citing works

The Neurodegenerative-Disease-Related Protein Sacsin Is a Molecular Chaperone

Anderson, J. F., Siller, E., & Barral, J. M. (2011) · Journal of Molecular Biology · doi:10.1016/j.jmb.2011.06.016 · Cited by 67 · see citing works

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

Kozlov, G., Denisov, A. Y., Girard, M., Dicaire, M., Hamlin, J. N. R., McPherson, P. S., Brais, B., & Gehring, K. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.232884 · Cited by 66 · see citing works

Movement disorders in mitochondrial diseases

Tranchant, C., & Anheim, M. (2016) · Revue Neurologique · doi:10.1016/j.neurol.2016.07.003 · Cited by 69 · see citing works

Heat shock proteins as modulators and therapeutic targets of chronic disease: an integrated perspective

Edkins, A. L., Price, J. T., Pockley, A. G., & Blatch, G. L. (2017) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2016.0521 · Cited by 64 · see citing works

Sacsinopathies: Sacsin-related ataxia

Takiyama, Y. (2007) · The Cerebellum · doi:10.1080/14734220701230466 · Cited by 64 · see citing works

Clinical presentation and early evolution of spastic ataxia of Charlevoix‐Saguenay

Duquette, A., Brais, B., Bouchard, J., & Mathieu, J. (2013) · Movement Disorders · doi:10.1002/mds.25604 · Cited by 61 · see citing works

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

Breckpot, J., Takiyama, Y., Thienpont, B., Vooren, S. V., Vermeesch, J. R., Ortibus, E., & Devriendt, K. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.58 · Cited by 63 · see citing works

Autosomal recessive spastic ataxia of Charlevoix‐Saguenay

Takiyama, Y. (2006) · Neuropathology · doi:10.1111/j.1440-1789.2006.00664.x · Cited by 63 · see citing works

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

Duncan, E. J., Larivière, R., Bradshaw, T. Y., Longo, F., Sgarioto, N., Hayes, M. J., Romano, L. E. L., Nethisinghe, S., Giunti, P., Bruntraeger, M. B., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx197 · Cited by 63 · see citing works

Prediction of the Coding Sequences of Mouse Homologues of KIAA Gene: II. The Complete Nucleotide Sequences of 400 Mouse KIAA-homologous cDNAs Identified by Screening of Terminal Sequences of cDNA Clones Randomly Sampled from Size-fractionated Libraries

Okazaki, N. (2003) · DNA Research · doi:10.1093/dnares/10.1.35 · Cited by 63 · see citing works

Parkinsonism and Related Disorders

Slow, E., & Lang, A. E. (2019) · DeckerMed Transitional Year Weekly Curriculum™ · doi:10.2310/tywc.1178 · Cited by 62 · see citing works

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

Richter, A. M., Özgül, R. K., Poisson, V., & Topaloğlu, H. (2004) · Neurogenetics · doi:10.1007/s10048-004-0179-y · Cited by 60 · see citing works

Prefoldin 5 Is Required for Normal Sensory and Neuronal Development in a Murine Model

Lee, Y., Smith, R. S., Jordan, W., King, B. L., Won, J., Valpuesta, J., Naggert, J. Κ., & Nishina, P. M. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.177352 · Cited by 58 · see citing works

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

Bradshaw, T. Y., Romano, L. E. L., Duncan, E. J., Nethisinghe, S., Abeti, R., Michael, G. J., Giunti, P., Vermeer, S., & Chapple, J. P. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw173 · Cited by 58 · see citing works

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

Vézina, H., Durocher, F., Dumont, M., Houde, L., Szabo, C., Tranchant, M., Chiquette, J., Plante, M., Laframboise, R., Lépine, J., et al. (2005) · Human Genetics · doi:10.1007/s00439-005-1297-9 · Cited by 58 · see citing works

A phenotype without spasticity in sacsin-related ataxia

Shimazaki, H., Takiyama, Y., Sakoe, K., Ando, Y., & Nakano, I. (2005) · Neurology · doi:10.1212/01.wnl.0000166031.91514.b3 · Cited by 57 · see citing works

Diversity of ARSACS Mutations in French-Canadians

Thiffault, I., Dicaire, M., Tétreault, M., Huang, K., Demers-Lamarche, J., Bernard, G., Duquette, A., Larivière, R., Gehring, K., Montpetit, A., et al. (2013) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100012968 · Cited by 57 · see citing works

Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders

Marrone, L., Marchi, P. M., & Azzouz, M. (2022) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2022.2012148 · Cited by 56 · see citing works

A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient

Liu, L., Li, X. B., Zi, X., Shen, L., Hu, Z. M., Huang, S. X., Yu, D., Li, H., Xia, K., Tang, B., et al. (2016) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2016.01.026 · Cited by 56 · see citing works

Impact of asymptomatic nodavirus carrier state and intraperitoneal viral mimic injection on brain transcript expression in Atlantic cod (Gadus morhua)

Rise, M. L., Hall, J. R., Rise, M., Hori, T. S. F., Browne, M. J., Gamperl, A. K., Hubert, S., Kimball, J., Bowman, S., & Johnson, S. C. (2010) · Physiological Genomics · doi:10.1152/physiolgenomics.00168.2009 · Cited by 56 · see citing works

The hereditary spinocerebellar ataxias in Japan

Sasaki, H., Yabe, I., & Tashiro, K. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072855 · Cited by 57 · see citing works

Troyer syndrome revisited

Proukakis, C., Cross, H., Patel, H., Patton, M., Valentine, A. R., & Crosby, A. H. (2004) · Journal of Neurology · doi:10.1007/s00415-004-0491-3 · Cited by 56 · see citing works

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., & Ober, C. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.007 · Cited by 55 · see citing works

A Splicing Mutation in the Novel Mitochondrial Protein DNAJC11 Causes Motor Neuron Pathology Associated with Cristae Disorganization, and Lymphoid Abnormalities in Mice

Ioakeimidis, F., Ott, C., Kozjak‐Pavlovic, V., Violitzi, F., Rinotas, V. E., Makrinou, E., Eliopoulos, E., Fasseas, C., Kollias, G. A., & Douni, E. K. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104237 · Cited by 54 · see citing works

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

Assoum, M., Salih, M. A. M., Drouot, N., Hmida, D., Lagier‐Tourenne, C., AlDrees, A., Elmalik, S. A., Ahmed, T. S., Seidahmed, M. Z., Kabiraj, M. M., et al. (2010) · Brain · doi:10.1093/brain/awq181 · Cited by 54 · see citing works

Movement disorders in mitochondrial disease

Ghaoui, R., & Sue, C. M. (2018) · Journal of Neurology · doi:10.1007/s00415-017-8722-6 · Cited by 56 · see citing works

Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon

Ouyang, Y., Takiyama, Y., Sakoe, K., Shimazaki, H., Ogawa, T., Nagano, S., Yamamoto, Y., & Nakano, I. (2006) · Neurology · doi:10.1212/01.wnl.0000204300.94261.ea · Cited by 54 · see citing works

Rare forms of autosomal recessive neurodegenerative ataxia

Koenig, M. (2003) · Seminars in Pediatric Neurology · doi:10.1016/s1071-9091(03)00027-5 · Cited by 53 · see citing works

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Parkinson, M. H., Bartmann, A. P., Clayton, L. M. S., Nethisinghe, S., Pfundt, R., Chapple, J. P., Reilly, M. M., Manji, H., Wood, N. W., Bremner, F., et al. (2018) · Brain · doi:10.1093/brain/awy028 · Cited by 52 · see citing works

Recent Advances in Hereditary Spinocerebellar Ataxias

van de Warrenburg, B. P. C., Sinke, R. J., & Kremer, B. P. H. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/64.3.171 · Cited by 51 · see citing works

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

Criscuolo, C., Saccà, F., Michele, G. D., Mancini, P., Combarros, O., Infante, J., y García, A. G., Banfi, S., Filla, A., & Berciano, J. (2005) · Movement Disorders · doi:10.1002/mds.20579 · Cited by 52 · see citing works

New findings in the ataxia of Charlevoix–Saguenay

Gazulla, J., Benavente‐Fernández, I., Vela, A. C., Marín, M. Á., Pablo, L. E., Tessa, A., Caballo, M. R. B., Santorelli, F. M., Nesti, C., Modrego, P. J., et al. (2011) · Journal of Neurology · doi:10.1007/s00415-011-6269-5 · Cited by 51 · see citing works

Understanding the Pathogenesis of Angelman Syndrome through Animal Models

Jana, N. R. (2012) · Neural Plasticity · doi:10.1155/2012/710943 · Cited by 51 · see citing works

A Novel SACS Gene Mutation in a Tunisian Family

Bouhlal, Y., Euch, G. E., Hentati, F., & Amouri, R. (2009) · Journal of Molecular Neuroscience · doi:10.1007/s12031-009-9212-9 · Cited by 22 · see citing works

Sacsinopathies: Sacsin-related ataxia

Takiyama, Y. (2007) · The Cerebellum · doi:10.1080/14734220701230466 · Cited by 64 · see citing works

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration

Bagaria, J., Bagyinszky, E., & An, S. S. A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23010552 · Cited by 41 · see citing works

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

Grieco, G., Malandrini, A., Comanducci, G., Leuzzi, V., Valoppi, M., Tessa, A., Palmeri, S., Benedetti, L., Pierallini, A., Gambelli, S., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000104491.66816.77 · Cited by 70 · see citing works

Structural and functional studies of Sacsin

Ménade, M., Kozlov, G., & Gehring, K. (2014) · Acta Crystallographica Section A Foundations and Advances · doi:10.1107/s2053273314091724