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Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
Published in:
Annals of the New York Academy of Sciences, 2016, v. 1366, n. 1, p. 49, doi. 10.1111/nyas.12850
By:
- Fogel, Brent L.;
- Lee, Hane;
- Strom, Samuel P.;
- Deignan, Joshua L.;
- Nelson, Stanley F.
Publication type:
Article
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01277-5
By:
- Hadjinicolaou, Aristides;
- Ngo, Kathie J.;
- Conway, Daniel Y.;
- Provias, John P.;
- Baker, Steven K.;
- Brady, Lauren I.;
- Bennett, Craig L.;
- La Spada, Albert R.;
- Fogel, Brent L.;
- Yoon, Grace
Publication type:
Article
The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).
Published in:
Journal of Child Neurology, 2020, v. 35, n. 14, p. 953, doi. 10.1177/0883073820943488
By:
- Burdekin, Emma D.;
- Fogel, Brent L.;
- Jeste, Shafali S.;
- Martinez, Julian;
- Rexach, Jessica E.;
- DiStefano, Charlotte;
- Hyde, Carly;
- Safari, Tabitha;
- Wilson, Rujuta B.
Publication type:
Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Published in:
2017
By:
- Zambonin, Jessica L.;
- Bellomo, Allison;
- Hilla Ben-Pazi;
- Everman, David B.;
- Frazer, Lee M.;
- Geraghty, Michael T.;
- Harper, Amy D.;
- Jones, Julie R.;
- Kamien, Benjamin;
- Kernohan, Kristin;
- Koenig, Mary Kay;
- Lines, Matthew;
- Palmer, Elizabeth Emma;
- Richardson, Randal;
- Segel, Reeval;
- Tarnopolsky, Mark;
- Vanstone, Jason R.;
- Gibbons, Melissa;
- Collins, Abigail;
- Fogel, Brent L.
Publication type:
journal article
α‐Synuclein in oligodendroglia and neuron‐derived blood exosomes distinguishes between synucleinopathies.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.056619
By:
- Dutta, Suman;
- Hornung, Simon;
- Kruayatidee, Adira;
- Maina, Katherine M;
- del Rosario, Irish;
- Paul, Kimberly;
- Palma, Jose Alberto;
- Perlman, Susan L.;
- Poon, Wayne W.;
- Gylys, Karen H;
- Kaufmann, Horacio;
- Fogel, Brent L.;
- Bronstein, Jeff M.;
- Ritz, Beate;
- Bitan, Gal
Publication type:
Article
Analysis of brain‐derived blood exosomes for diagnostics of synucleinopathies.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.058110
By:
- Dutta, Suman;
- Hornung, Simon;
- Kruayatidee, Adira;
- Maina, Katherine M;
- del Rosario, Irish;
- Paul, Kimberly;
- Poon, Wayne W.;
- Fogel, Brent L.;
- Bronstein, Jeff M.;
- Ritz, Beate;
- Bitan, Gal
Publication type:
Article
P4‐182: NEURONAL AND OLIGODENDROGLIAL EXOSOMAL α‐SYNUCLEIN DISTINGUISHES PARKINSON'S DISEASE FROM MULTIPLE SYSTEM ATROPHY.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1345, doi. 10.1016/j.jalz.2019.06.3844
By:
- Dutta, Suman;
- del Rosario, Irish;
- Paul, Kimberly;
- Palma, Jose Alberto;
- Perlman, Susan L.;
- Poon, Wayne W.;
- Kaufmann, Horacio;
- Fogel, Brent L.;
- Bronstein, Jeff M.;
- Ritz, Beate;
- Bitan, Gal
Publication type:
Article
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. e660, doi. 10.1210/clinem/dgaa700
By:
- Pelletier, Félixe;
- Perrier, Stefanie;
- Cayami, Ferdy K.;
- Mirchi, Amytice;
- Saikali, Stephan;
- Tran, Luan T.;
- Ulrick, Nicole;
- Guerrero, Kether;
- Rampakakis, Emmanouil;
- van Spaendonk, Rosalina M. L.;
- Naidu, Sakkubai;
- Pohl, Daniela;
- Gibson, William T.;
- Demos, Michelle;
- Goizet, Cyril;
- Tejera-Martin, Ingrid;
- Potic, Ana;
- Fogel, Brent L.;
- Brais, Bernard;
- Sylvain, Michel
Publication type:
Article
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
Published in:
Cerebellum, 2024, v. 23, n. 2, p. 391, doi. 10.1007/s12311-023-01537-1
By:
- Beijer, Danique;
- Fogel, Brent L.;
- Beltran, Sergi;
- Danzi, Matt C.;
- Németh, Andrea H.;
- Züchner, Stephan;
- Synofzik, Matthis;
- AGI Ataxia NGS genomics, platforms Working Group;
- Adarmes, Astrid;
- Alhusaini, Saud;
- Ashrafi, Mahmoud Reza;
- Bataller, Luis;
- Bertini, Enrico;
- Boesch, Sylvia;
- Buijsen, Ronald;
- Cassou, Emanuel;
- Chan, Edwin;
- Damásio, Joana;
- Donis, Karina;
- Elert-Dobkowska, Ewelina
Publication type:
Article
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).
Published in:
Cerebellum, 2019, v. 18, n. 3, p. 448, doi. 10.1007/s12311-019-01012-w
By:
- Becherel, Olivier J.;
- Fogel, Brent L.;
- Zeitlin, Scott I.;
- Samaratunga, Hemamali;
- Greaney, Jessica;
- Homer, Hayden;
- Lavin, Martin F.
Publication type:
Article
Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2.
Published in:
Cerebellum, 2009, v. 8, n. 4, p. 448, doi. 10.1007/s12311-009-0130-8
By:
- Fogel, Brent L.;
- Lee, Ji Yong;
- Perlman, Susan
Publication type:
Article
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
Published in:
Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.708
By:
- Paucar, Martin;
- Taylor, Alexander M. R.;
- Hadjivassiliou, Marios;
- Fogel, Brent L.;
- Svenningsson, Per
Publication type:
Article
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia.
Published in:
JAMA Neurology, 2014, v. 71, n. 10, p. 1237, doi. 10.1001/jamaneurol.2014.1944
By:
- Fogel, Brent L.;
- Hane Lee;
- Deignan, Joshua L.;
- Strom, Samuel P.;
- Kantarci, Sibel;
- Xizhe Wang;
- Quintero-Rivera, Fabiola;
- Vilain, Eric;
- Grody, Wayne W.;
- Perlman, Susan;
- Geschwind, Daniel H.;
- Nelson, Stanley F.
Publication type:
Article
Efficient polyadenylation of Rous sarcoma virus RNA requires the negative regulator of splicing element.
Published in:
Nucleic Acids Research, 2002, v. 30, n. 3, p. 810, doi. 10.1093/nar/30.3.810
By:
- Fogel, Brent L.;
- McNally, Lisa M.;
- McNally, Mark T.
Publication type:
Article
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report.
Published in:
2023
By:
- Duggirala, Niharika;
- Ngo, Kathie J.;
- Pagnoni, Sabrina M.;
- Rosa, Alberto L.;
- Fogel, Brent L.
Publication type:
Case Study
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Published in:
NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00703-4
By:
- Ngo, Kathie J.;
- Paul, Kimberly C.;
- Wong, Darice;
- Kusters, Cynthia D. J.;
- Bronstein, Jeff M.;
- Ritz, Beate;
- Fogel, Brent L.
Publication type:
Article
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2320, doi. 10.1002/acn3.51209
By:
- Diaz, Frank;
- Khosa, Shaweta;
- Niyazov, Dmitriy;
- Lee, Hane;
- Person, Richard;
- Morrow, Michelle M.;
- Signer, Rebecca;
- Dorrani, Naghmeh;
- Zheng, Allison;
- Herzog, Matthew;
- Freundlich, Robert;
- Birath, J. Brandon;
- Cervantes‐Manzo, Yurivia;
- Martinez‐Agosto, Julian A.;
- Palmer, Christina;
- Nelson, Stanley F.;
- Fogel, Brent L.;
- Mishra, Shri K.
Publication type:
Article
Collaborative science unites researchers and a novel spastic ataxia gene.
Published in:
2018
By:
- Fogel, Brent L.
Publication type:
journal article
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
Published in:
Annals of Neurology, 2012, v. 72, n. 3, p. 433, doi. 10.1002/ana.23598
By:
- Mochel, Fanny;
- Schiffmann, Raphael;
- Steenweg, Marjan E.;
- Akman, Hasan O.;
- Wallace, Mary;
- Sedel, Frédéric;
- Laforêt, Pascal;
- Levy, Richard;
- Powers, J. Michael;
- Demeret, Sophie;
- Maisonobe, Thierry;
- Froissart, Roseline;
- Da Nobrega, Bruno Barcelos;
- Fogel, Brent L.;
- Natowicz, Marvin R.;
- Lubetzki, Catherine;
- Durr, Alexandra;
- Brice, Alexis;
- Rosenmann, Hanna;
- Barash, Varda
Publication type:
Article
Long non-coding RNA TUG1 is downregulated in Friedreich's ataxia.
Published in:
Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae170
By:
- Koka, Mert;
- Li, Hui;
- Akther, Rumana;
- Perlman, Susan;
- Wong, Darice;
- Fogel, Brent L;
- Lynch, David R;
- Chandran, Vijayendran
Publication type:
Article
miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 1, p. 103, doi. 10.1093/hmg/ddaa252
By:
- Hinman, Jason D;
- Ngo, Kathie J;
- Kim, Deborah;
- Chen, Cidi;
- Abraham, Carmela R;
- Ghanbari, Mohsen;
- Ikram, M Arfan;
- Kushner, Steven A;
- Kawaguchi, Riki;
- Coppola, Giovanni;
- Goth, Kerstin;
- Bellusci, Saverio;
- Hernandez, Israel;
- Kosik, Kenneth S;
- Fogel, Brent L
Publication type:
Article
ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 12, p. 2451, doi. 10.1093/hmg/ddw110
By:
- Berto, Stefano;
- Usui, Noriyoshi;
- Konopka, Genevieve;
- Fogel, Brent L.
Publication type:
Article
A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 20, p. 5759, doi. 10.1093/hmg/ddv296
By:
- Becherel, Olivier J.;
- Sun, Jane;
- Yeo, Abrey J.;
- Nayler, Sam;
- Fogel, Brent L.;
- Fuying Gao;
- Coppola, Giovanni;
- Criscuolo, Chiara;
- De Michele, Giuseppe;
- Wolvetang, Ernst;
- Lavin, Martin F.
Publication type:
Article
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 18, p. 4758, doi. 10.1093/hmg/ddu190
By:
- Fogel, Brent L.;
- Cho, Ellen;
- Wahnich, Amanda;
- Gao, Fuying;
- Becherel, Olivier J.;
- Wang, Xizhe;
- Fike, Francesca;
- Chen, Leslie;
- Criscuolo, Chiara;
- De Michele, Giuseppe;
- Filla, Alessandro;
- Collins, Abigail;
- Hahn, Angelika F.;
- Gatti, Richard A.;
- Konopka, Genevieve;
- Perlman, Susan;
- Lavin, Martin F.;
- Geschwind, Daniel H.;
- Coppola, Giovanni
Publication type:
Article
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 19, p. 4171, doi. 10.1093/hmg/dds240
By:
- Fogel, Brent L.;
- Wexler, Eric;
- Wahnich, Amanda;
- Friedrich, Tara;
- Vijayendran, Chandran;
- Gao, Fuying;
- Parikshak, Neelroop;
- Konopka, Genevieve;
- Geschwind, Daniel H.
Publication type:
Article
α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
Published in:
Acta Neuropathologica, 2021, v. 142, n. 3, p. 495, doi. 10.1007/s00401-021-02324-0
By:
- Dutta, Suman;
- Hornung, Simon;
- Kruayatidee, Adira;
- Maina, Katherine N.;
- del Rosario, Irish;
- Paul, Kimberly C.;
- Wong, Darice Y.;
- Duarte Folle, Aline;
- Markovic, Daniela;
- Palma, Jose-Alberto;
- Serrano, Geidy E.;
- Adler, Charles H.;
- Perlman, Susan L.;
- Poon, Wayne W.;
- Kang, Un Jung;
- Alcalay, Roy N.;
- Sklerov, Miriam;
- Gylys, Karen H.;
- Kaufmann, Horacio;
- Fogel, Brent L.
Publication type:
Article
Correction to: α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
Published in:
2021
By:
- Dutta, Suman;
- Hornung, Simon;
- Kruayatidee, Adira;
- Maina, Katherine N.;
- del Rosario, Irish;
- Paul, Kimberly C.;
- Wong, Darice Y.;
- Duarte Folle, Aline;
- Markovic, Daniela;
- Palma, Jose-Alberto;
- Serrano, Geidy E.;
- Adler, Charles H.;
- Perlman, Susan L.;
- Poon, Wayne W.;
- Kang, Un Jung;
- Alcalay, Roy N.;
- Sklerov, Miriam;
- Gylys, Karen H.;
- Kaufmann, Horacio;
- Fogel, Brent L.
Publication type:
Correction Notice
Acute pharmacogenetic dystonic reactions in a family with the CYP2D6 *41 allele: a case report.
Published in:
2021
By:
- Wong, Darice Y.;
- Fogel, Brent L.
Publication type:
journal article
Childhood Cerebellar Ataxia.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 9, p. 1138, doi. 10.1177/0883073812448231
By:
- Fogel, Brent L.
Publication type:
Article
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
Published in:
BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03354-9
By:
- Schoenmakers, Daphne H.;
- Leferink, Prisca S.;
- Vanderver, Adeline;
- Bonkowsky, Joshua L.;
- Krägeloh-Mann, Ingeborg;
- Bernard, Geneviève;
- Bertini, Enrico;
- Fatemi, Ali;
- Fogel, Brent L.;
- Wolf, Nicole I.;
- Skwirut, Donna;
- Buck, Allyson;
- Holberg, Brett;
- Saunier-Vivar, Elise F.;
- Rauner, Robert;
- Dekker, Hanka;
- van Bokhoven, Pieter;
- Stellingwerff, Menno D.;
- Berkhof, Johannes;
- van der Knaap, Marjo S.
Publication type:
Article
Toward a biomarker panel measured in CNS-originating extracellular vesicles for improved differential diagnosis of Parkinson's disease and multiple system atrophy.
Published in:
Translational Neurodegeneration, 2023, v. 12, n. 1, p. 1, doi. 10.1186/s40035-023-00346-0
By:
- Taha, Hash Brown;
- Hornung, Simon;
- Dutta, Suman;
- Fenwick, Leony;
- Lahgui, Otmane;
- Howe, Kathryn;
- Elabed, Nour;
- del Rosario, Irish;
- Wong, Darice Y.;
- Duarte Folle, Aline;
- Markovic, Daniela;
- Palma, Jose-Alberto;
- Kang, Un Jung;
- Alcalay, Roy N.;
- Sklerov, Miriam;
- Kaufmann, Horacio;
- Fogel, Brent L.;
- Bronstein, Jeff M.;
- Ritz, Beate;
- Bitan, Gal
Publication type:
Article
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
Published in:
JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1880, doi. 10.1001/jama.2014.14604
By:
- Lee, Hane;
- Deignan, Joshua L.;
- Dorrani, Naghmeh;
- Strom, Samuel P.;
- Kantarci, Sibel;
- Quintero-Rivera, Fabiola;
- Das, Kingshuk;
- Toy, Trad;
- Harry, Bret;
- Yourshaw, Michael;
- Fox, Michelle;
- Fogel, Brent L.;
- Martinez-Agosto, Julian A.;
- Wong, Derek A.;
- Chang, Vivian Y.;
- Shieh, Perry B.;
- Palmer, Christina G. S.;
- Dipple, Katrina M.;
- Grody, Wayne W.;
- Vilain, Eric
Publication type:
Article
multiWGCNA: an R package for deep mining gene co-expression networks in multi-trait expression data.
Published in:
BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-023-05233-z
By:
- Tommasini, Dario;
- Fogel, Brent L.
Publication type:
Article
Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
Published in:
Movement Disorders, 2015, v. 30, n. 2, p. 284, doi. 10.1002/mds.26096
By:
- Fogel, Brent L.;
- Hanson, Sonya M.;
- Becker, Esther B. E.
Publication type:
Article
C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia.
Published in:
Movement Disorders, 2012, v. 27, n. 14, p. 1835, doi. 10.1002/mds.25245
By:
- Fogel, Brent L.;
- Pribadi, Mochtar;
- Pi, Sarah;
- Perlman, Susan L.;
- Geschwind, Daniel H.;
- Coppola, Giovanni
Publication type:
Article
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Published in:
Movement Disorders, 2012, v. 27, n. 3, p. 442, doi. 10.1002/mds.24064
By:
- Fogel, Brent L.;
- Lee, Ji Yong;
- Lane, Jessica;
- Wahnich, Amanda;
- Chan, Sandy;
- Huang, Alden;
- Osborn, Greg E.;
- Klein, Eric;
- Mamah, Catherine;
- Perlman, Susan;
- Geschwind, Daniel H.;
- Coppola, Giovanni
Publication type:
Article

Found: 36