Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Aloysius Domingo"'
Autor:
Gabriel Miltenberger-Miltenyi, Roberto A. Ortega, Aloysius Domingo, Rachita Yadav, Ayumi Nishiyama, Deborah Raymond, Viktoriya Katsnelson, Nikita Urval, Matthew Swan, Vicki Shanker, Joan Miravite, Ruth H. Walker, Susan B. Bressman, Laurie J. Ozelius, José C. Cabassa, Rachel Saunders-Pullman
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-6 (2023)
Abstract There is a paucity of genetic characterization in people with Parkinson’s disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD and in 119 non-Hispanic-non-J
Externí odkaz:
https://doaj.org/article/5ee46333b7a6487c91382f81069e20b7
Autor:
Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
Externí odkaz:
https://doaj.org/article/63607ac1340c4282b5f0385f8b733957
Autor:
Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann, Karen Grütz, Raymond L. Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E. Diesta, Michael Wittig, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna, Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J. Ozelius, Frank J. Kaiser, Inke R. König, Ana Westenberger
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-8 (2021)
Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with
Externí odkaz:
https://doaj.org/article/11ebd21e7c7b492c804497da333f8fd9
Autor:
Anne J. Blood, Jeff L. Waugh, Thomas F. Münte, Marcus Heldmann, Aloysius Domingo, Christine Klein, Hans C. Breiter, Lillian V. Lee, Raymond L. Rosales, Norbert Brüggemann
Publikováno v:
NeuroImage: Clinical, Vol 17, Iss , Pp 835-846 (2018)
Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP) suggests tissue loss may occur first and/or most severely in the striatal striosome compartment, followed later by cell loss in the matrix compartment. However, litt
Externí odkaz:
https://doaj.org/article/2f6692026a4f4f4d90ae75df7c5db8f1
Autor:
Henrike Hanssen, Cid C. E. Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T. S. Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Björn‐Hergen Laabs, Aloysius Domingo, Raymond L. Rosales, Christine Klein, Thomas F. Münte, Ana Westenberger, Jean Q. Oropilla, Norbert Brüggemann
Publikováno v:
Annals of Neurology. 93:999-1011
Publikováno v:
Journal of Neural Transmission. 128:405-416
Four genes associated with isolated dystonia are currently well replicated and validated. DYT-THAP1 manifests as young-onset generalized dystonia with predominant craniocervical symptoms; and is associated with mostly deleterious missense variation i
Autor:
Julia Steinhardt, Henrike Hanssen, Marcus Heldmann, Andreas Sprenger, Björn‐Hergen Laabs, Aloysius Domingo, Charles Jourdan Reyes, Jannik Prasuhn, Max Brand, Raymond Rosales, Thomas F. Münte, Christine Klein, Ana Westenberger, Jean Q. Oropilla, Cid Diesta, Norbert Brüggemann
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 37(7)
Early diagnosis in patients with neurodegenerative disorders is crucial to initiate disease-modifying therapies at a time point where progressive neurodegeneration can still be modified.The objective of this study was to determine whether motor or no
Autor:
Meike Kasten, Ana Westenberger, Connie Marras, Aloysius Domingo, Alexander Balck, Susen Schaake, Björn-Hergen Laabs, Valerija Dobricic, Katja Lohmann, Christine Klein, Daniel Alvarez-Fischer, Wei Luo, Jason Margolesky, Neele Kuhnke, Harutyun Madoev, Gaël Nicolas
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 36(11)
This systematic MDSGene review covers individuals with confirmed genetic forms of primary familial brain calcification (PFBC) available in the literature. Data on 516 (47% men) individuals, carrying heterozygous variants in SLC20A2 (solute carrier fa
Autor:
Shivangi Shah, Michelle E. Ehrlich, Dadi Gao, Serkan Erdin, William T. Hendriks, Michael E. Talkowski, Benjamin Currall, Nutan Sharma, Aloysius Domingo, James F. Gusella, Kathryn O’Keefe, Rachita Yadav, D. Cristopher Bragg, Laurie J. Ozelius
Dystonia is a neurologic disorder associated with an increasingly large number of variants in many genes, resulting in characteristic disturbances in volitional movement. Dissecting the relationships between these mutations and their functional outco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1058b7d8b05db671bf4540e8d96116
https://doi.org/10.1101/2021.06.22.449452
https://doi.org/10.1101/2021.06.22.449452
Autor:
Ana Westenberger, Katja Lohmann, Laurie J. Ozelius, Peter Bauer, Björn-Hergen Laabs, Aleksandar Rakovic, Karen Grütz, Christine Klein, Raymond L. Rosales, Alexander Münchau, Valerija Dobricic, Cid Czarina E. Diesta, Roland Dominic G. Jamora, Jelena Pozojevic, Charles Jourdan Reyes, Susen Schaake, Henrike Hanssen, Norbert Brüggemann, Aloysius Domingo, Uwe Walter, Gerard Saranza, Dirk Dressler, Inke R. König, Arndt Rolfs, Frank J. Kaiser, Kimberly Begemann
Publikováno v:
Annals of Neurology. 85:812-822
Objective X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT)n repeat within the SVA insertion has been reported as an