Search Results - Larissa Arning
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Handedness genetics: considering the phenotype by Sebastian Ocklenburg, Christian Beste, Larissa Arning
Published 2014Artigo -
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Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1 by Doris Steinemann, Larissa Arning, Inka Praulich, Manfred Stuhrmann, Henrik Hasle, Jiří Starý, B. Schlegelberger, Charlotte M. Niemeyer, Christian Flotho
Published 2009Artigo -
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Handedness and the X chromosome: The role of androgen receptor CAG-repeat length by Larissa Arning, Sebastian Ocklenburg, Stefanie Schulz, Vanessa Ness, Wanda M. Gerding, Jan G. Hengstler, Michael Falkenstein, Jörg T. Epplen, Onur Güntürkün, Christian Beste
Published 2015Artigo -
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PCSK6 VNTR Polymorphism Is Associated with Degree of Handedness but Not Direction of Handedness by Larissa Arning, Sebastian Ocklenburg, Stefanie Schulz, Vanessa Ness, Wanda M. Gerding, Jan G. Hengstler, Michael Falkenstein, Jörg T. Epplen, Onur Güntürkün, Christian Beste
Published 2013Artigo -
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Polygenic Scores for Cognitive Abilities and Their Association with Different Aspects of General Intelligence—A Deep Phenotyping Approach by Erhan Genç, Caroline Schlüter, Christoph Fraenz, Larissa Arning, Dorothea Metzen, Huu Phuc Nguyen, Manuel C. Voelkle, Fabian Streit, Onur Güntürkün, Robert Kumsta, Sebastian Ocklenburg
Published 2021Artigo -
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Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range by Hailey Findlay Black, Galen E.B. Wright, Jennifer A. Collins, Nicholas S. Caron, Chris Kay, Qingwen Xia, Larissa Arning, Emilia K. Bijlsma, Ferdinando Squitieri, Huu Phuc Nguyen, Michael R. Hayden
Published 2020Artigo -
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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene by Maria Cristina D’Adamo, Constanze Gallenmà ⁄ ller, Ilenio Servettini, Elisabeth Härtl, Stephen J. Tucker, Larissa Arning, Saskia Biskup, Alessandro Grottesi, Luca Guglielmi, Paola Imbrici, Pia Bernasconi, Giuseppe Di Giovanni, Fabio Franciolini, Luigi Catacuzzeno, Mauro Pessia, Thomas Klopstock
Published 2015Artigo -
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Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1 by Ricardo Mouro Pinto, Larissa Arning, James V. Giordano, Pedram Razghandi, Marissa A Andrew, Tammy Gillis, Kevin Correia, Jayalakshmi Srinidhi Mysore, Debora-M Grote Urtubey, Constanze Rana Parwez, Sarah Hein, H. Brent Clark, Huu Phuc Nguyen, Eckart Förster, Allison Beller, Suman Jayadaev, C. Dirk Keene, Thomas D. Bird, Diane Lucente, Jean-Paul G. Vonsattel, Harry T. Orr, Carsten Saft, Elisabeth Petrasch‐Parwez, Vanessa C. Wheeler
Published 2020Artigo -
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients by Mathieu Anheim, B. Monga, Marie‐Céline Fleury, Perrine Charles, Clara Barbot, Mustafa A. Salih, Jean‐Pierre Delaunoy, M. Fritsch, Larissa Arning, Matthis Synofzik, Lüdger Schöls, Jorge Sequeiros, Cyril Goizet, Cécilia Marelli, Isabelle Le Ber, Jeanette Koht, José Gazulla, Jan De Bleecker, Moawia M. Mukhtar, Nathalie Drouot, Lamia Alipacha, Traki Benhassine, M. Chbicheb, A. M’zahem, Abdelmadjid Hamri, B. Chabrol, Jean Pouget, Raymond P. Murphy, Masao Watanabe, Paula Coutinho, Mériem Tazir, Alexandra Dürr, Alexis Brice, Christine Tranchant, Michel Kœnig
Published 2009Artigo -
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants by Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden
Published 2020Artigo -
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment by Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou, Pasquale Striano, Jana Vandrovcová, Maria Concetta Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marcé‐Grau, Miquel Raspall‐Chaure, Elena Martín‐Hernández, Federico Zara, Carlo Minetti, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frédéric Tran Mau‐Them, Laurence Faivre, Francisco Martínez‐Azorín, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden, Vincenzo Salpietro, Stéphanie Efthymiou, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Blagovesta Marinova Karashova, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Erica Pironti, Jatinder S. Goraya, Tipu Sultan, Salman Kirmani, Shahnaz Ibrahim, Farida Jan, Jun Mine, Selina Banu, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Barbara Garavaglia, Carmela Scuderi, Eugenia Borgione, Valeria Dipasquale, Maria Concetta Cutrupi, Simona Portaro, Benigno Monteagudo Sanchez, Mercedes Pineda-Marfa, Francina Munell, Alfons Macaya, Richard G. Boles, Gali Heimer, Savvas Papacostas, Andreea Manole, Nancy T. Malintan, M. Natalia Zanetti, Michael G. Hanna, James E. Rothman, Dimitri M. Kullmann, Henry Houlden
Published 2019Artigo -
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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification by Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O’Callaghan, John McKinley, Reza Maroofian, Stéphanie Efthymiou, Alkyoni Athanasiou‐Fragkouli, Raeburn Forbes, Marc P. M. Soutar, John H. Livingston, Bernardett Kalmar, Orlando Swayne, Gary Hotton, Alan Pittman, João Ricardo Mendes de Oliveira, Maria De Grandis, Angela Richard-Loendt, Francesca Launchbury, Juri Althonayan, Gavin McDonnell, Aisling Carr, Suliman Khan, Christian Beetz, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Amber Begtrup, Erin Torti, Linda Greensmith, Paola Giunti, Patrick J. Morrison, Sebastian Brandner, Michel Aurrand‐Lions, Henry Houlden, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed
Published 2020Artigo -
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination by Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botía, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcová, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, James E. Rothman, Dimitri M. Kullmann, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Shen‐Yang Lim, Mohd. Farooq Shaikh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves Dauvilliers, Carlo Minetti, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Menelaos Pipis, Conceição Bettencourt, Simon Rinaldi, Laurence E. Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale de Lonlay, Vincent Cantagrel, M. Aguennouz, M. El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden
Published 2019Artigo
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