Search Results - "VANDROVCOVA, Jana"

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia by Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

“…Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed…”
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Applying genomic and transcriptomic advances to mitochondrial medicine by Macken, William L., Vandrovcova, Jana, Hanna, Michael G., Pitceathly, Robert D. S.

“…Next-generation sequencing (NGS) has increased our understanding of the molecular basis of many primary mitochondrial diseases (PMDs). Despite this progress,…”
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Prevalence of familial cluster headache: a systematic review and meta-analysis by O’Connor, Emer, Simpson, Benjamin S., Houlden, Henry, Vandrovcova, Jana, Matharu, Manjit

“…Introduction The population rate of familial cluster headache (CH) has been reported to be as high as 20% however this varies considerably across studies. To…”
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GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy by Yau, Wai Yan, Sullivan, Roisin, Chen, Zhongbo, Lynch, David S., Vandrovcova, Jana, Wood, Nicholas W., Houlden, Henry

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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project by Bourinaris, Thomas, Smedley, Damian, Cipriani, Valentina, Sheikh, Isabella, Athanasiou-Fragkouli, Alkyoni, Chinnery, Patrick, Morris, Huw, Real, Raquel, Harrison, Victoria, Reid, Evan, Wood, Nicholas, Vandrovcova, Jana, Houlden, Henry, Tucci, Arianna

“…Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP…”
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The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders by Salpietro, Vincenzo, Zollo, Massimo, Vandrovcova, Jana, Ryten, Mina, Botia, Juan A, Ferrucci, Veronica, Manole, Andreea, Efthymiou, Stephanie, Al Mutairi, Fuad, Bertini, Enrico, Tartaglia, Marco, Houlden, Henry

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement by Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Aleck, Kirk, Banki, Zoltan, Dudas, Joszef, Dumfahrt, Herbert, Haririan, Hady, Hartsfield, James K., Kagen, Charles N., Lindert, Uschi, Meitinger, Thomas, Posch, Wilfried, Pritz, Christian, Ross, David, Schroer, Richard J., Wick, Georg, Wildin, Robert, Wilflingseder, Doris, Byers, Peter H., Zschocke, Johannes

“…Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth,…”
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies by TRABZUNI, Daniah, WRAY, Selina, AREPALLI, Sampath, SINGLETON, Andrew B, COOKSON, Mark R, PITTMAN, Alan M, DE SILVA, Rohan, WEALE, Michael E, HARDY, John, RYTEN, Mina, VANDROVCOVA, Jana, RAMASAMY, Adaikalavan, WALKER, Robert, SMITH, Colin, LUK, Connie, RAPHAEL GIBBS, J, DILLMAN, Allissa, HERNANDEZ, Dena G

“…The MAPT (microtubule-associated protein tau) locus is one of the most remarkable in neurogenetics due not only to its involvement in multiple…”
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases by Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

“…Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and…”
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Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally by D’Sa, Karishma, Guelfi, Sebastian, Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Hardy, John, Botía, Juan A., Weale, Michael E., Taliun, Sarah A. Gagliano, Small, Kerrin S., Ryten, Mina

“…Gaining insight into the genetic regulation of gene expression in human brain is key to the interpretation of genome-wide association studies for major…”
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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study by Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C, van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, Robert, Taylor, Robert W, Patel, Krutik, Fassad, Mahmoud R, Vandrovcova, Jana, Wanders, Ronald J A, van der Westhuizen, Francois H

“…Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of…”
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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information by Guelfi, Sebastian, D’Sa, Karishma, Botía, Juan A., Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Trabzuni, Daniah, Collado-Torres, Leonardo, Thomason, Andrew, Quijada Leyton, Pedro, Gagliano Taliun, Sarah A., Nalls, Mike A., Small, Kerrin S., Smith, Colin, Ramasamy, Adaikalavan, Hardy, John, Weale, Michael E., Ryten, Mina

“…Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An…”
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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage by Chen, Zhongbo, Zhang, David, Reynolds, Regina H., Gustavsson, Emil K., García-Ruiz, Sonia, D’Sa, Karishma, Fairbrother-Browne, Aine, Vandrovcova, Jana, Hardy, John, Houlden, Henry, Gagliano Taliun, Sarah A., Botía, Juan, Ryten, Mina

“…Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing…”
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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) by Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F, Kölbel, Heike, Roos, Andreas, Horvath, Rita

“…TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA…”
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Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome by Weerakkody, Ruwan A., Vandrovcova, Jana, Kanonidou, Christina, Mueller, Michael, Gampawar, Piyush, Ibrahim, Yousef, Norsworthy, Penny, Biggs, Jennifer, Abdullah, Abdulshakur, Ross, David, Black, Holly A., Ferguson, David, Cheshire, Nicholas J., Kazkaz, Hanadi, Grahame, Rodney, Ghali, Neeti, Vandersteen, Anthony, Pope, F. Michael, Aitman, Timothy J.

“…Ehlers–Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including…”
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Solving unsolved rare neurological diseases-a Solve-RD viewpoint by Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E, Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis

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The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia by Mahungu, Amokelani C., Steyn, Elizabeth, Floudiotis, Niki, Wilson, Lindsay A., Vandrovcova, Jana, Reilly, Mary M., Record, Christopher J., Benatar, Michael, Wu, Gang, Raga, Sharika, Wilmshurst, Jo M., Naidu, Kireshnee, Hanna, Michael, Nel, Melissa, Heckmann, Jeannine M.

“…Limited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) are mainly aimed at the most…”
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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint by Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, Baets, Jonathan, Balicza, Peter, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Horvath, Rita, Houlden, Henry, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, van de Warrenburg, Bart, van Os, Nienke, Vandrovcova, Jana, Wilke, Carlo, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida

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The South Asian genome by Chambers, John C, Abbott, James, Zhang, Weihua, Turro, Ernest, Scott, William R, Tan, Sian-Tsung, Afzal, Uzma, Afaq, Saima, Loh, Marie, Lehne, Benjamin, O'Reilly, Paul, Gaulton, Kyle J, Pearson, Richard D, Li, Xinzhong, Lavery, Anita, Vandrovcova, Jana, Wass, Mark N, Miller, Kathryn, Sehmi, Joban, Oozageer, Laticia, Kooner, Ishminder K, Al-Hussaini, Abtehale, Mills, Rebecca, Grewal, Jagvir, Panoulas, Vasileios, Lewin, Alexandra M, Northwood, Korrinne, Wander, Gurpreet S, Geoghegan, Frank, Li, Yingrui, Wang, Jun, Aitman, Timothy J, McCarthy, Mark I, Scott, James, Butcher, Sarah, Elliott, Paul, Kooner, Jaspal S

“…The genetic sequence variation of people from the Indian subcontinent who comprise one-quarter of the world's population, is not well described. We carried out…”
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Variation in tau isoform expression in different brain regions and disease states by Majounie, Elisa, Cross, William, Newsway, Victoria, Dillman, Allissa, Vandrovcova, Jana, Morris, Christopher M, Nalls, Michael A, Ferrucci, Luigi, Owen, Michael J, O'Donovan, Michael C, Cookson, Mark R, Singleton, Andrew B, de Silva, Rohan, Morris, Huw R

“…Abstract Progressive supranuclear palsy (PSP) is the most common atypical parkinsonian disorder. Abnormal tau inclusions, in selected regions of the brain, are…”
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