Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Lisa Kinsley"'
Autor:
Ignacio J, Keller Sarmiento, Mitra, Afshari, Lisa, Kinsley, Vincenzo, Silani, Rizwan S, Akhtar, Tanya, Simuni, Steven J, Lubbe, Dimitri, Krainc, Niccolò E, Mencacci
Publikováno v:
Parkinsonism & Related Disorders. 104:88-90
Bi-allelic mutations in FBXO7 are classically associated with a complex phenotype, known as parkinsonian-pyramidal syndrome. We describe two brothers affected by typical early onset Parkinson's disease (EOPD), who carry novel compound heterozygous va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8199b2817c82bd762c236b5d66fe3fe0
https://doi.org/10.1016/j.parkreldis.2022.10.014
https://doi.org/10.1016/j.parkreldis.2022.10.014
Publikováno v:
Clinical geneticsREFERENCES. 103(1)
Keppen-Lubinsky syndrome is caused by pathogenic variants in KCNJ6, which encodes the inwardly rectifying channel subfamily J6. The four confirmed cases reported to date were characterized by severe intellectual disability, global developmental delay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6c608fcf8f810bbfa9e48a4247a9c1b
https://pubmed.ncbi.nlm.nih.gov/36071510
https://pubmed.ncbi.nlm.nih.gov/36071510
Autor:
Issam Ben-Sahra, Mona Grimmel, Marcello Scala, Nina Ekhilevich, Valeria Capra, Hannah C Happ, Gemma L. Carvill, John Millichap, Lynne M. Bird, Anna Chassevent, Meredith Hiller, Eva M. C. Schwaibold, Tova Hershkovitz, Miriam C. Aziz, Najma Mohamed, Constance Smith-Hicks, Irena Bellinski, Elizabeth E. Gerard, Andrea Accogli, Kristy Zeng, Colleen Gleason, Jonathan Gunti, Lisa Kinsley, Pasquale Striano, Emily Bryant, Karin Weiss, Jeffrey D. Calhoun, Divakar S. Mithal, Annalaura Torella
Biallelic pathogenic variants in SZT2 result in a neurodevelopmental disorder with shared features, including early-onset epilepsy, developmental delay, macrocephaly, and corpus callosum abnormalities. SZT2 is as a critical scaffolding protein in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ce051f8837d3f7d7f0eb6e3f966924
https://hdl.handle.net/11567/1119258
https://hdl.handle.net/11567/1119258
Autor:
Alexandra M. Huffman, Elizabeth E. Gerard, Gemma L. Carvill, Jeffrey D. Calhoun, Irena Bellinski, Jennifer A. Kearney, Lisa Kinsley, Elizabeth Bachman
Publikováno v:
Hum Mutat
CACNA1H genetic variants were originally reported in a childhood absence epilepsy cohort. Subsequently, genetic testing for CACNA1H became available and is currently offered by commercial laboratories. However, the current status of CACNA1H as a mono
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48c3b22c1ce6e8603e6e8cf999fe1029
https://pubmed.ncbi.nlm.nih.gov/32227660
https://pubmed.ncbi.nlm.nih.gov/32227660
Autor:
Gary L. Pattee, Muddasir Quereshi, Paul Wicks, Todd Levine, Chafic Karam, Edor Kabashi, Christen Shoesmith, Jonathan Goldstein, John T. Kissel, Jim Wymer, Fernando G. Vieira, Pamela Kittrell, Carmel Armon, Josep Gamez, Laurie Gutmann, Lisa Kinsley, Gleb Levitsky, Katherine Tindall, Janice Robertson, Yunxia Wang, Emma Fixsen, Carlayne E. Jackson, Stacy A. Rudnicki, Michael Benatar, Robert Bowser, Robin Conwit, Michael J. Strong, Bjorn Oskarsson, Rob Goldstein, Eric J. Sorenson, Alexander Sherman, Neta Zach, Kathy Mitchell, Peter M Andersen, Ahmad Ghavanini, Kristiana Salmon, Richard Bedlack, Nicholas J. Maragakis, Bonnie Gerecke, Jeffrey D. Rothstein, Leo McClusky, Paul E. Barkhaus, Efrat Carmi, Ginna Gonzalez, Jonathan Licht, Steve Perrin, Hiroshi Mitsumoto, Brett M. Morrison, Meraida Polak, Melanie Leitner, Tahseen Mozaffar, Lyle Ostrow, Orla Hardiman, Lorne Zinman, Daniel M. Pastula, Michael H. Rivner, Mazen M. Dimachkie, Steven Nash, Megan Grosso, Ashok Verma, James Heywood, Vivian E. Drory, Erik P. Pioro, Larry Phillips, Gregory T. Carter, Michael D. Weiss, Nazem Atassi, Jeffrey V. Rosenfeld, Khema Sharma, Yvonne Baker, Jon Baker, Christina Fournier, Kevin Boylan, Mark Bromberg, Tulio E. Bertorini, L. P. Rowland, Eric Valor, Sith Sathornsumetee, Rup Tandan, Colin Quinn, Jeremy M. Shefner, James A. Russell, Steve Kolb, Steven Novella, James Caress, Robert G. Miller, Mieko Ogino, George Sachs, Jonathan D. Glass, David Saperstein, Dan Moore, John Ravits, Terry Heiman-Patterson, Dallas Forshew, Catherine Lomen-Hoerth, Daniel MacGowan, Kate Dalton, Merit Cudkowicz, Noah Lechtzin
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 18:142-147
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::570a922b566c3d9208d18c255fc40bc8
https://doi.org/10.1080/21678421.2016.1215400
https://doi.org/10.1080/21678421.2016.1215400
Autor:
Lisa Kinsley, Christen Shoesmith, Steven Nash, Peter M Andersen, John T. Kissel, Daniel M. Pastula, Josep Gamez, Nicholas J. Maragakis, Michael H. Rivner, Michael D. Weiss, Jeffrey V. Rosenfeld, James A. Russell, Kathy Mitchell, Steve Kolb, Melanie Leitner, Jim Wymer, Larry Phillips, Jon Baker, Jeffrey D. Rothstein, Erik P. Pioro, Katherine Tindall, Khema Sharma, Stacy A. Rudnicki, Jonathan D. Glass, James Caress, Janice Robertson, Meraida Polak, Tulio E. Bertorini, Paul Wicks, Yunxia Wang, Carlayne E. Jackson, L. P. Rowland, Megan Grosso, Bjorn Oskarsson, Carmel Armon, Leo McClusky, David Saperstein, Lorne Zinman, Laurie Gutmann, Gregory T. Carter, Robert Bowser, Gary L. Pattee, Kristiana Salmon, Brett M. Morrison, Richard Bedlack, Fernando G. Vieira, Orla Hardiman, Edor Kabashi, Sith Sathornsumetee, Vivian E. Drory, Jeremy M. Shefner, Emma Fixsen, Robert G. Miller, Steve Perrin, Michael Benatar, Hiroshi Mitsumoto, Alexander Sherman, Colin Quinn, Todd Levine, Neta Zach, Christina Fournier, Jonathan Goldstein, Lyle Ostrow, Mark Bromberg, Terry Heiman-Patterson, Dallas Forshew, Steven Novella, Mieko Ogino, George Sachs, John Ravits, Dan Moore, James Heywood, Merit Cudkowicz, Noah Lechtzin, Catherine Lomen-Hoerth, Daniel MacGowan, Kate Dalton, Ashok Verma, Yvonne Baker, Muddasir Quereshi, Kevin Boylan, Pamela Kittrell, Gleb Levitsky, Eric J. Sorenson, Robin Conwit, Rob Goldstein, Eric Valor, Rup Tandan, Nazem Atassi, Ahmad Ghavanini, Paul E. Barkhaus, Ginna Gonzalez, Efrat Carmi, Tahseen Mozaffar, Chafic Karam, Mazen M. Dimachkie, Michael J. Strong, Jonathan Licht, Bonnie Gerecke
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 17:622-624
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c95af434728c94efaded44209e47ff8c
https://doi.org/10.3109/21678421.2016.1172818
https://doi.org/10.3109/21678421.2016.1172818
Publikováno v:
Journal of Huntington's disease. 6(4)
Background Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. In most cases the disease is inherited from a parent, although a considerable number of affected persons have no reported family history of the disease. While C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87ee97994f6c28573bda694f41ce172f
https://pubmed.ncbi.nlm.nih.gov/28984613
https://pubmed.ncbi.nlm.nih.gov/28984613
Autor:
Hubert Kwieciński, Dan Moore, Gary L. Pattee, Edor Kabashi, Chafic Karam, James Caress, Ashok Verma, Brett M. Morrison, Mieko Ogino, George Sachs, Orla Hardiman, Bonnie Gerecke, Vivian E. Drory, Hiroshi Mitsumoto, Gleb Levitsky, Josep Gamez, James Heywood, Nazem Atassi, Michael D. Weiss, Jeffrey V. Rosenfeld, Colin Quinn, Kathy Mitchell, Robin Conwit, Steven Novella, Mark B. Bromberg, Lewis P. Rowland, Jerry M. Belsh, Michael J. Strong, Todd Levine, Jonathan D. Glass, Yunxia Wang, Carlayne E. Jackson, Jon Baker, Muddasir Quereshi, Melanie Leitner, David Saperstein, Carmel Armon, Leo McClusky, Jonathan Licht, Terry Heiman-Patterson, Dallas Forshew, Laurie Gutmann, Pamela Kittrell, Jonathan Goldstein, Khema Sharma, Alexander Sherman, Efrat Carmi, Tahseen Mozaffar, James A. Russell, Merit Cudkowicz, Meraida Polak, Lorne Zinman, Michael Benatar, Jim Wymer, Christina Fournier, Noah Lechtzin, Eric Valor, Mazen M. Dimachkie, Steve Kolb, Megan Grosso, Katherine Tindall, Gregory T. Carter, Stacy A. Rudnicki, Lyle Ostrow, Eric J. Sorenson, Jeffrey D. Rothstein, Robert Bowser, Bjorn Oskarsson, Rup Tandan, Catherine Lomen-Hoerth, Daniel MacGowan, Peter M Andersen, Kate Dalton, Daniel M. Pastula, Craig Oster, Paul Wicks, Richard Bedlack, Michael H. Rivner, Nicholas J. Maragakis, John Ravits, Erik P. Pioro, Christen Shoesmith, John T. Kissel, Tulio E. Bertorini, Jeremy M. Shefner, Paul E. Barkhaus, Kevin Boylan, Jeff Dietz, Ginna Gonzalez, Sith Sathornsumetee, Larry Phillips, Steven Nash, Robert G. Miller, Janice Robertson, Lisa Kinsley
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 16:142-145
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91061c3d2c76e7b4722fc13e59f6ad84
https://doi.org/10.3109/21678421.2014.987476
https://doi.org/10.3109/21678421.2014.987476
Autor:
Lisa Kinsley, Suzanne M. O'Neill, Nailah Siddique, Teepu Siddique, David Victorson, Deborah E. H. Hartzfeld
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 16:114-119
This qualitative study explored the reproductive decision-making process in individuals at 50% risk for familial amyotrophic lateral sclerosis (FALS) from families with a known genetic mutation. We spoke with 10 individuals utilizing a semi-structure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c12592e7a1cc14233b415ad0bf482e
https://doi.org/10.3109/21678421.2014.951945
https://doi.org/10.3109/21678421.2014.951945
Autor:
Muddasir Quereshi, Bjorn Oskarsson, Peter M Andersen, Pamela Kittrell, Mark B. Bromberg, Gleb Levitsky, Richard Bedlack, Nicholas J. Maragakis, Leo McClusky, Michael J. Strong, Robin Conwit, Lewis P. Rowland, Efrat Carmi, Tahseen Mozaffar, Alexander Sherman, Mazen M. Dimachkie, Yunxia Wang, Megan Grosso, Brett M. Morrison, Carlayne E. Jackson, Eric J. Sorenson, Craig Oster, John Ravits, Meraida Polak, Orla Hardiman, Hubert Kwieciński, Terry Heiman-Patterson, Dallas Forshew, Christina Fournier, Jonathan Licht, Dan Moore, Carmel Armon, Gregory T. Carter, Gary L. Pattee, James Heywood, Katherine Tindall, Stacy A. Rudnicki, Edor Kabashi, Laurie Gutmann, Jonathan D. Glass, David Saperstein, Chafic Karam, Kevin Boylan, Daniel M. Pastula, Lorne Zinman, Lisa Kinsley, Eric Valor, Michael H. Rivner, Kathy Mitchell, Neta Zach, James A. Russell, Vivian E. Drory, Melanie Leitner, James Caress, Khema Sharma, Rup Tandan, Colin Quinn, Steven Novella, Ashok Verma, Larry Phillips, Catherine Lomen-Hoerth, Daniel MacGowan, Jim Wymer, Michael Benatar, Kate Dalton, Steve Kolb, Michael D. Weiss, Jeffrey V. Rosenfeld, Nazem Atassi, Robert Bowser, Jon Baker, Merit Cudkowicz, Noah Lechtzin, Jeffrey D. Rothstein, Paul Wicks, Steven Nash, Christen Shoesmith, John T. Kissel, Josep Gamez, Bonnie Gerecke, Hiroshi Mitsumoto, Janice Robertson, Paul E. Barkhaus, Ginna Gonzalez, Mieko Ogino, George Sachs, Todd Levine, Jonathan Goldstein, Jeremy M. Shefner, Tulio E. Bertorini, Robert G. Miller, Sith Sathornsumetee, Lyle Ostrow, Erik P. Pioro, Jeff Dietz
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 16:427-429
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ca3855dbe24ae2a44412c7c042ed974
https://doi.org/10.3109/21678421.2015.1050897
https://doi.org/10.3109/21678421.2015.1050897