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1. Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.

Author

Van Lent, Jonas, Prior, Robert, Pérez Siles, Gonzalo, Cutrupi, Anthony, Kennerson, Marina, Vangansewinkel, Tim, Wolfs, Esther, Mukherjee-Clavin, Bipasha, Nevin, Zachary, Judge, Luke, Conklin, Bruce, Tyynismaa, Henna, Clark, Alex, Bennett, David, Van Den Bosch, Ludo, Saporta, Mario, and Timmerman, Vincent

Subjects
Humans, Induced Pluripotent Stem Cells, Animals, Peripheral Nervous System Diseases, Organoids, Models, Biological
Abstract

Inherited peripheral neuropathies (IPNs) are a group of diseases associated with mutations in various genes with fundamental roles in the development and function of peripheral nerves. Over the past 10 years, significant advances in identifying molecular disease mechanisms underlying axonal and myelin degeneration, acquired from cellular biology studies and transgenic fly and rodent models, have facilitated the development of promising treatment strategies. However, no clinical treatment has emerged to date. This lack of treatment highlights the urgent need for more biologically and clinically relevant models recapitulating IPNs. For both neurodevelopmental and neurodegenerative diseases, patient-specific induced pluripotent stem cells (iPSCs) are a particularly powerful platform for disease modeling and preclinical studies. In this review, we provide an update on different in vitro human cellular IPN models, including traditional two-dimensional monoculture iPSC derivatives, and recent advances in more complex human iPSC-based systems using microfluidic chips, organoids, and assembloids.

Published
2024

3. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, and Ravenscroft, Gianina

Published
2024
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4. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, and Ravenscroft, Gianina

Published
2024
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7. The GENESIS database and tools: A decade of discovery in Mendelian genomics

Author

Danzi, Matt C., Powell, Eric, Rebelo, Adriana P., Dohrn, Maike F., Beijer, Danique, Fazal, Sarah, Xu, Isaac R.L., Medina, Jessica, Chen, Sitong, Arcia de Jesus, Yeisha, Schatzman, Jacquelyn, Hershberger, Ray E., Saporta, Mario, Baets, Jonathan, Falk, Marni, Herrmann, David N., Scherer, Steven S., Reilly, Mary M., Cortese, Andrea, Marques, Wilson, Cornejo-Olivas, Mario R., Sanmaneechai, Oranee, Kennerson, Marina L., Jordanova, Albena, Silva, Thiago Y.T., Pedroso, Jose Luiz, Schierbaum, Luca, Ebrahimi-Fakhari, Darius, Peric, Stojan, Lee, Yi-Chung, Synofzik, Matthis, Tekin, Mustafa, Ravenscroft, Gianina, Shy, Mike, Basak, Nazli, Schule, Rebecca, and Zuchner, Stephan

Published
2024
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9. Genome sequencing reanalysis increases the diagnostic yield in dystonia

Author

Fellner, Avi, Wali, Gurusidheshwar M., Mahant, Neil, Grosz, Bianca R., Ellis, Melina, Narayanan, Ramesh K., Ng, Karl, Davis, Ryan L., Tchan, Michel C., Kotschet, Katya, Yeow, Dennis, Rudaks, Laura I., Siow, Sue-Faye, Wali, Gautam, Yiannikas, Con, Hobbs, Matthew, Copty, Joseph, Geaghan, Michael, Darveniza, Paul, Liang, Christina, Williams, Laura J., Chang, Florence C.F., Morales-Briceño, Hugo, Tisch, Stephen, Hayes, Michael, Whyte, Scott, Kummerfeld, Sarah, Kennerson, Marina L., Cowley, Mark J., Fung, Victor S.C., Sue, Carolyn M., and Kumar, Kishore R.

Published
2024
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11. ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)

Author

Edgar, Suzanna, Zulhairy-Liong, Nurul Angelyn, Ellis, Melina, Trivedi, Shuchi, Zhu, Danqing, Odongo, Jeffrey Ochieng, Goh, Khean-Jin, Capelle, David Paul, Shahrizaila, Nortina, Kennerson, Marina L., and Ahmad-Annuar, Azlina

Abstract

Intermediate CAG repeats from 29 to 33 in the ATXN2 gene contributes to the risk of amyotrophic lateral sclerosis (ALS) in European and Asian populations. In this study, 148 ALS patients of multiethnic descent: Chinese (56.1%), Malay (24.3%), Indian (12.8%), others (6.8%) and 100 neurologically normal controls were screened for the ATXN2 CAG repeat expansion. The most common repeat length in both the controls and patients was 22. No familial ALS patients were positive for the intermediate repeat sizes (29–33), while four sporadic patients (2.8%) were positive, with one harbouring a rare ATXN2 homozygous 32 repeat expansion, and a likely pathogenic variant in SPAST. All four patients had limb-onset ALS. Despite representing the smallest ethnic group in our patient cohort, three of the four patients with intermediate repeat sizes were of Indian ancestry. This study, which is the first in Malaysia and Southeast Asia, shows that ATXN2 intermediate risk expansions are relevant to ALS in these populations and will help to inform future genetic testing strategies in the clinic. [ABSTRACT FROM AUTHOR]

Published
2025
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13. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing

Author

Grosz, Bianca R., primary, Parmar, Jevin M., additional, Ellis, Melina, additional, Bryen, Samantha, additional, Simons, Cas, additional, Reis, Andre L. M., additional, Stevanovski, Igor, additional, Deveson, Ira W., additional, Nicholson, Garth, additional, Laing, Nigel, additional, Wallis, Mathew, additional, Ravenscroft, Gianina, additional, Kumar, Kishore R., additional, Vucic, Steve, additional, and Kennerson, Marina L., additional

Published
2024
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17. An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia

Author

El‐Wahsh, Shadi, primary, Fellner, Avi, additional, Hobbs, Matthew, additional, Copty, Joe, additional, Deveson, Ira, additional, Stevanovski, Igor, additional, Stoll, Marion, additional, Zhu, Danqing, additional, Narayanan, Ramesh K., additional, Grosz, Bianca, additional, Worgan, Lisa, additional, Cheong, Pak Leng, additional, Yeow, Dennis, additional, Rudaks, Laura, additional, Hasan, Md Mehedi, additional, Hayes, Vanessa M., additional, Kennerson, Marina, additional, Kumar, Kishore R., additional, and Hayes, Michael, additional

Published
2024
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18. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Author

Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, Jame, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, Jame, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthi, Stojkovic, Tanya, Hadjivassiliou, Mario, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, Null, Null, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, Jame, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, Jame, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthi, Stojkovic, Tanya, Hadjivassiliou, Mario, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, Null, Null, and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)

Abstract

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multi-variate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases. A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset (smaller allele HR = 2.06, p < 0.001; larger allele HR = 1.53, p < 0.001) and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, p < 0.001; larger allele HR = 1.71, p = 0.002) or loss of independent walking (smaller allele HR = 2.78, p < 0.001; larger allele HR = 1.60; p < 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions (smaller allele: complex neuropathy RR = 1.30, p = 0.003; CANVAS RR = 1.34, p < 0.001; larger allele: complex neuropathy RR = 1.33, p = 0.008; CANVAS RR = 1.31, p = 0

Published
2024

21. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

Author

Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., N. Löscher, Wolfgang, Ludolph, Albert, Marques, Wilson, Jr, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, and Auer-Grumbach, Michaela

Published
2020
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27. Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

Author

Musa, Nurul Huda, primary, Thilakavathy, Karuppiah, additional, Mohamad, Nur Afiqah, additional, Kennerson, Marina L., additional, Inche Mat, Liyana Najwa, additional, Loh, Wei Chao, additional, Abdul Rashid, Anna Misyail, additional, Baharin, Janudin, additional, Ibrahim, Azliza, additional, Wan Sulaiman, Wan Aliaa, additional, Hoo, Fan Kee, additional, Basri, Hamidon, additional, and Yusof Khan, Abdul Hanif Khan, additional

Published
2023
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32. Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

Author

Cipriani, Silvia, primary, Guerrero‐Valero, Marta, additional, Tozza, Stefano, additional, Zhao, Edward, additional, Vollmer, Veith, additional, Beijer, Danique, additional, Danzi, Matt, additional, Rivellini, Cristina, additional, Lazarevic, Dejan, additional, Pipitone, Giovanni Battista, additional, Grosz, Bianca Rose, additional, Lamperti, Costanza, additional, Marzoli, Stefania Bianchi, additional, Carrera, Paola, additional, Devoto, Marcella, additional, Pisciotta, Chiara, additional, Pareyson, Davide, additional, Kennerson, Marina, additional, Previtali, Stefano C., additional, Zuchner, Stephan, additional, Scherer, Steven S., additional, Manganelli, Fiore, additional, Bähler, Martin, additional, and Bolino, Alessandra, additional

Published
2022
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33. Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy

Author

Cutrupi, Anthony N, primary, Narayanan, Ramesh K, additional, Perez-Siles, Gonzalo, additional, Grosz, Bianca R, additional, Lai, Kaitao, additional, Boyling, Alexandra, additional, Ellis, Melina, additional, Lin, Ruby C Y, additional, Neumann, Brent, additional, Mao, Di, additional, Uesugi, Motonari, additional, Nicholson, Garth A, additional, Vucic, Steve, additional, Saporta, Mario A, additional, and Kennerson, Marina L, additional

Published
2022
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35. Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

Author

He, Jin, primary, Liu, Xiao‐Xuan, additional, Ma, Ming‐Ming, additional, Lin, Jing‐Jing, additional, Fu, Jun, additional, Chen, Yi‐Kun, additional, Xu, Guo‐Rong, additional, Xu, Liu‐Qing, additional, Fu, Zhi‐Fei, additional, Xu, Dan, additional, Chen, Wen‐Feng, additional, Cao, Chun‐Yan, additional, Shi, Yan, additional, Zeng, Yi‐Heng, additional, Zhang, Jing, additional, Chen, Xiao‐Chun, additional, Zhang, Ru‐Xu, additional, Wang, Ning, additional, Kennerson, Marina, additional, Fan, Dong‐Sheng, additional, and Chen, Wan‐Jin, additional

Published
2022
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36. Genetic analysis of failed male puberty using whole exome sequencing

Author

Akram, Maleeha, primary, Handelsman, David J., additional, Qayyum, Mazhar, additional, Kennerson, Marina, additional, Rauf, Sania, additional, Ahmed, Shahid, additional, Ishtiaq, Osama, additional, Ismail, Muhammad, additional, Mansoor, Qaisar, additional, Naseem, Afzaal Ahmed, additional, and Rizvi, Syed Shakeel Raza, additional

Published
2022
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39. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

Author

Strickland, Alleene V., Schabhüttl, Maria, Offenbacher, Hans, Synofzik, Matthis, Hauser, Natalie S., Brunner-Krainz, Michaela, Gruber-Sedlmayr, Ursula, Moore, Steven A., Windhager, Reinhard, Bender, Benjamin, Harms, Matthew, Klebe, Stephan, Young, Peter, Kennerson, Marina, Garcia, Avencia Sanchez Mejias, Gonzalez, Michael A., Züchner, Stephan, Schule, Rebecca, Shy, Michael E., and Auer-Grumbach, Michaela

Published
2015
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40. Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration

Author

Cutrupi, Anthony N., primary, Narayanan, Ramesh K., additional, Perez-Siles, Gonzalo, additional, Grosz, Bianca R., additional, Lai, Kaitao, additional, Boyling, Alexandra, additional, Ellis, Melina, additional, Lin, Ruby CY, additional, Neumann, Brent, additional, Mao, Di, additional, Uesugi, Motonari, additional, Nicholson, Garth A., additional, Vucic, Steve, additional, Saporta, Mario A., additional, and Kennerson, Marina L., additional

Published
2022
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42. Repeat expansion size predicts age of onset in RFC1 CANVAS and disease spectrum (S29.005)

Author

Cortese, Andrea, primary, Curro’, Riccardo, additional, Dominik, Natalia, additional, Hadjivassiliou, Marios, additional, Hartmann, Annette, additional, Basak, Nazli, additional, Vegezzi, Elisa, additional, Kennerson, Marina, additional, Roxburgh, Richard, additional, Laing, Nigel, additional, Pareyson, Davide, additional, Taroni, Franco, additional, Manganelli, Fiore, additional, Mandich, Paola, additional, Fabrizi, Gianni Maria, additional, Briani, Chiara, additional, Murphy, Sinead, additional, Jokela, Manu, additional, Infante, Jon, additional, Santorelli, Filippo Maria, additional, Brusco, Alfredo, additional, Silvestri, Gabriella, additional, Zuchner, Stephan, additional, Stojkovic, Tanya, additional, Sumner, Charlotte, additional, Synofzik, Matthis, additional, Reilly, Mary, additional, and Houlden, Henry, additional

Published
2022
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44. A novel synonymousKMT2Bvariant in a patient with dystonia causes aberrant splicing

Author

Grosz, Bianca R., primary, Tisch, Stephen, additional, Tchan, Michel C., additional, Fung, Victor S. C., additional, Darveniza, Paul, additional, Fellner, Avi, additional, Kurian, Manju A., additional, McLean, Alison, additional, Tomlinson, Susan E., additional, Smyth, Renee, additional, Devery, Sophie, additional, Wu, Kathy H. C., additional, Kennerson, Marina L., additional, and Kumar, Kishore R., additional

Published
2022
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46. Long read sequencing overcomes challenges in the diagnosis ofSORDneuropathy

Author

Grosz, Bianca R., primary, Stevanovski, Igor, additional, Negri, Sara, additional, Ellis, Melina, additional, Barnes, Stephanie, additional, Reddel, Stephen, additional, Vucic, Steve, additional, Nicholson, Garth A., additional, Cortese, Andrea, additional, Kumar, Kishore R., additional, Deveson, Ira W., additional, and Kennerson, Marina L., additional

Published
2022
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47. Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Author

Stevanovski, Igor, primary, Chintalaphani, Sanjog R., additional, Gamaarachchi, Hasindu, additional, Ferguson, James M., additional, Pineda, Sandy S., additional, Scriba, Carolin K., additional, Tchan, Michel, additional, Fung, Victor, additional, Ng, Karl, additional, Cortese, Andrea, additional, Houlden, Henry, additional, Dobson-Stone, Carol, additional, Fitzpatrick, Lauren, additional, Halliday, Glenda, additional, Ravenscroft, Gianina, additional, Davis, Mark R., additional, Laing, Nigel G., additional, Fellner, Avi, additional, Kennerson, Marina, additional, Kumar, Kishore R., additional, and Deveson, Ira W., additional

Published
2022
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48. NATURAL HISTORY STUDY OF SORD NEUROPATHY

Author

Cortese, Andrea, Dohrn, Maike, Curro, Riccardo, Seeman, Pavel, Stojkovic, Tanya, Hammans, Simon, Previtali, Stefano, Bolino, Alessandra, Schenone, Angelo, Kennerson, Marina, Rojas-Garcia, Ricardo, Sevilla, Teresa, Hahn, Katrin, Claeys, Kristl, Brunkhorst, Robert, Cavalcanti, Francesca, Manganelli, Fiore, Zhang, Ruxu, Houlden, Henry, Scherer, Steven, Herrmann, David, Pareyson, Davide, Reilly, Mary, Shy, Michael, and Zuchner, Stephan

Published
2022

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