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FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
Published in:
Annals of Neurology, 2012, v. 71, n. 4, p. 487, doi. 10.1002/ana.22671
By:
- Evans-Galea, Marguerite V.;
- Carrodus, Nissa;
- Rowley, Simone M.;
- Corben, Louise A.;
- Tai, Geneieve;
- Saffery, Richard;
- Galati, John C.;
- Wong, Nicholas C.;
- Craig, Jeffrey M.;
- Lynch, David R.;
- Regner, Sean R.;
- Brocht, Alicia F. D.;
- Perlman, Susan L.;
- Bushara, Khalaf O.;
- Gomez, Christopher M.;
- Wilmot, George R.;
- Li, Lingli;
- Varley, Elizabeth;
- Delatycki, Martin B.;
- Sarsero, Joseph P.
Publication type:
Article
Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
Published in:
Annals of Neurology, 1997, v. 42, n. 6, p. 933, doi. 10.1002/ana.410420616
By:
- Gomez, Christopher M.;
- Thompson, Randall M.;
- Gammack, Jason T.;
- Perlman, Susan L.;
- Dobyns, William B.;
- Truwit, Charles L.;
- Zee, David S.;
- Clark, H. Brent;
- Anderson, John H.
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
Frataxin levels in peripheral tissue in Friedreich ataxia.
Published in:
Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 831, doi. 10.1002/acn3.225
By:
- Lazaropoulos, Michael;
- Dong, Yina;
- Clark, Elisia;
- Greeley, Nathaniel R.;
- Seyer, Lauren A.;
- Brigatti, Karlla W.;
- Christie, Carlton;
- Perlman, Susan L.;
- Wilmot, George R.;
- Gomez, Christoper M.;
- Mathews, Katherine D.;
- Yoon, Grace;
- Zesiewicz, Theresa;
- Hoyle, Chad;
- Subramony, Sub H.;
- Brocht, Alicia F.;
- Farmer, Jennifer M.;
- Wilson, Robert B.;
- Deutsch, Eric C.;
- Lynch, David R.
Publication type:
Article
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Published in:
2016
By:
- Galea, Charles A.;
- Huq, Aamira;
- Lockhart, Paul J.;
- Tai, Geneieve;
- Corben, Louise A.;
- Yiu, Eppie M.;
- Gurrin, Lyle C.;
- Lynch, David R.;
- Gelbard, Sarah;
- Durr, Alexandra;
- Pousset, Francoise;
- Parkinson, Michael;
- Labrum, Robyn;
- Giunti, Paola;
- Perlman, Susan L.;
- Delatycki, Martin B.;
- Evans‐Galea, Marguerite V.
Publication type:
journal article
Corrigendum: Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.
Published in:
2007
By:
- Herman, David;
- Jenssen, Kai;
- Burnett, Ryan;
- Soragni, Elisabetta;
- Perlman, Susan L;
- Gottesfeld, Joel M
Publication type:
Correction notice
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.
Published in:
Nature Chemical Biology, 2006, v. 2, n. 10, p. 551, doi. 10.1038/nchembio815
By:
- Herman, David;
- Jenssen, Kai;
- Burnett, Ryan;
- Soragni, Elisabetta;
- Perlman, Susan L.;
- Gottesfeld, Joel M.
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
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
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 14, p. 2627, doi. 10.1093/hmg/ddx141
By:
- Jasoliya, Mittal J.;
- McMackin, Marissa Z.;
- Henderson, Chelsea K.;
- Perlman, Susan L.;
- Cortopassi, Gino A.
Publication type:
Article
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 25, p. 6848, doi. 10.1093/hmg/ddu408
By:
- Sahdeo, Sunil;
- Scott, Brian D.;
- McMackin, Marissa Z.;
- Jasoliya, Mittal;
- Brown, Brandon;
- Wulff, Heike;
- Perlman, Susan L.;
- Pook, Mark A.;
- Cortopassi, Gino A.
Publication type:
Article
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu408
By:
- Sahdeo, Sunil;
- Scott, Brian D.;
- McMackin, Marissa Z.;
- Jasoliya, Mittal;
- Brown, Brandon;
- Wulff, Heike;
- Perlman, Susan L.;
- Pook, Mark A.;
- Cortopassi, Gino A.
Publication type:
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
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
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts.
Published in:
Cancer Medicine, 2023, v. 12, n. 13, p. 14663, doi. 10.1002/cam4.6075
By:
- Neves, Renata;
- De Dios Perez, Blanca;
- Panek, Rafal;
- Jagani, Sumit;
- Wilne, Sophie;
- Bhatt, Jayesh M.;
- Caputi, Caterina;
- Cirillo, Emilia;
- Coman, David J.;
- Dückers, Gregor;
- Gilbert, Donald L.;
- Kay Koenig, Mary;
- Mansour, Lobna;
- McDermott, Elizabeth;
- Pauni, Micaela;
- Pignata, Claudio;
- Perlman, Susan L.;
- Porras, Oscar;
- Betina Porto, Mariela;
- Schon, Katherine
Publication type:
Article
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
Published in:
Journal of Child Neurology, 2018, v. 33, n. 6, p. 397, doi. 10.1177/0883073818764941
By:
- Ejaz, Resham;
- Chen, Shiyi;
- Isaacs, Charles J.;
- Carnevale, Amanda;
- Wilson, Judith;
- George, Kristen;
- Delatycki, Martin B.;
- Perlman, Susan L.;
- Mathews, Katherine D.;
- Wilmot, George R.;
- Hoyle, J. Chad;
- Subramony, Sub H.;
- Zesiewicz, Theresa;
- Farmer, Jennifer M.;
- Lynch, David R.;
- Yoon, Grace
Publication type:
Article
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Published in:
Journal of Neurology, 2024, v. 271, n. 7, p. 3743, doi. 10.1007/s00415-024-12475-1
By:
- Petit, Emilien;
- Schmitz-Hübsch, Tanja;
- Coarelli, Giulia;
- Jacobi, Heike;
- Heinzmann, Anna;
- Figueroa, Karla P.;
- Perlman, Susan L.;
- Gomez, Christopher M.;
- Wilmot, George R.;
- Schmahmann, Jeremy D.;
- Ying, Sarah H.;
- Zesiewicz, Theresa A.;
- Paulson, Henry L.;
- Shakkottai, Vikram G.;
- Bushara, Khalaf O.;
- Kuo, Sheng-Han;
- Geschwind, Michael D.;
- Xia, Guangbin;
- Pulst, Stefan M.;
- Subramony, S. H.
Publication type:
Article
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
Published in:
Journal of Neurology, 2024, v. 271, n. 4, p. 1844, doi. 10.1007/s00415-023-12118-x
By:
- Lynch, David R.;
- Rojsajjakul, Teerapat;
- Subramony, S. H.;
- Perlman, Susan L.;
- Keita, Medina;
- Mesaros, Clementina;
- Blair, Ian A.
Publication type:
Article
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
Published in:
Cerebellum, 2024, v. 23, n. 4, p. 1411, doi. 10.1007/s12311-023-01651-0
By:
- Selvadurai, Louisa P.;
- Perlman, Susan L.;
- Ashizawa, Tetsuo;
- Wilmot, George R.;
- Onyike, Chiadi U.;
- Rosenthal, Liana S.;
- Shakkottai, Vikram G.;
- Paulson, Henry L.;
- Subramony, Sub H.;
- Bushara, Khalaf O.;
- Kuo, Sheng-Han;
- Dietiker, Cameron;
- Geschwind, Michael D.;
- Nelson, Alexandra B.;
- Gomez, Christopher M.;
- Opal, Puneet;
- Zesiewicz, Theresa A.;
- Hawkins, Trevor;
- Yacoubian, Talene A.;
- Nopoulos, Peggy C.
Publication type:
Article
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
Published in:
Cerebellum, 2023, v. 22, n. 5, p. 790, doi. 10.1007/s12311-022-01424-1
By:
- Selvadurai, Louisa P.;
- Perlman, Susan L.;
- Wilmot, George R.;
- Subramony, Sub H.;
- Gomez, Christopher M.;
- Ashizawa, Tetsuo;
- Paulson, Henry L.;
- Onyike, Chiadi U.;
- Rosenthal, Liana S.;
- Sair, Haris I.;
- Kuo, Sheng-Han;
- Ratai, Eva-Maria;
- Zesiewicz, Theresa A.;
- Bushara, Khalaf O.;
- Öz, Gülin;
- Dietiker, Cameron;
- Geschwind, Michael D.;
- Nelson, Alexandra B.;
- Opal, Puneet;
- Yacoubian, Talene A.
Publication type:
Article
Comorbid Medical Conditions in Friedreich Ataxia.
Published in:
Journal of Child Neurology, 2016, v. 31, n. 9, p. 1161, doi. 10.1177/0883073816643408
By:
- Shinnick, Julianna E.;
- Schadt, Kimberly;
- Strawser, Cassandra;
- Wilcox, Nicholas;
- Perlman, Susan L.;
- Wilmot, George R.;
- Gomez, Christopher M.;
- Mathews, Katherine D.;
- Yoon, Grace;
- Zesiewicz, Theresa;
- Hoyle, Chad;
- Subramony, S. H.;
- Yiu, Eppie M.;
- Delatycki, Martin B.;
- Brocht, Alicia F.;
- Farmer, Jennifer M.;
- Lynch, David R.
Publication type:
Article
A Review of Friedreich Ataxia Clinical Trial Results.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 9, p. 1217, doi. 10.1177/0883073812453872
By:
- Perlman, Susan L.
Publication type:
Article
Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 9, p. 1095, doi. 10.1177/0883073812448840
By:
- Ashley, Claire N.;
- Hoang, Kelly D.;
- Lynch, David R.;
- Perlman, Susan L.;
- Maria, Bernard L.
Publication type:
Article
Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 9, p. 1159, doi. 10.1177/0883073812448460
By:
- Deutsch, Eric C.;
- Seyer, Lauren A.;
- Perlman, Susan L.;
- Yu, Jeanette;
- Lynch, David R.
Publication type:
Article
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-177
By:
- Ashizawa, Tetsuo;
- Figueroa, Karla P.;
- Perlman, Susan L.;
- Gomez, Christopher M.;
- Wilmot, George R.;
- Schmahmann, Jeremy D.;
- Ying, Sarah H.;
- Zesiewicz, Theresa A.;
- Paulson, Henry L.;
- Shakkottai, Vikram G.;
- Bushara, Khalaf O.;
- Kuo, Sheng-Han;
- Geschwind, Michael D.;
- Xia, Guangbin;
- Mazzoni, Pietro;
- Krischer, Jeffrey P.;
- Cuthbertson, David;
- Holbert, Amy Roberts;
- Ferguson, John H.;
- Pulst, Stefan M.
Publication type:
Article
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Published in:
2013
By:
- Ashizawa, Tetsuo;
- Figueroa, Karla P;
- Perlman, Susan L;
- Gomez, Christopher M;
- Wilmot, George R;
- Schmahmann, Jeremy D;
- Ying, Sarah H;
- Zesiewicz, Theresa A;
- Paulson, Henry L;
- Shakkottai, Vikram G;
- Bushara, Khalaf O;
- Kuo, Sheng-Han;
- Geschwind, Michael D;
- Xia, Guangbin;
- Mazzoni, Pietro;
- Krischer, Jeffrey P;
- Cuthbertson, David;
- Holbert, Amy Roberts;
- Ferguson, John H;
- Pulst, Stefan M
Publication type:
journal article
Reply.
Published in:
Annals of Neurology, 1983, v. 14, n. 5, p. 597, doi. 10.1002/ana.410140525
By:
- Nuwer, Marc R.;
- Perlman, Susan L.;
- W, James W.;
- Kark, R. A. Pieter
Publication type:
Article
Evoked potential abnormalities in the various inherited ataxias.
Published in:
Annals of Neurology, 1983, v. 13, n. 1, p. 20, doi. 10.1002/ana.410130106
By:
- Nuwer, Marc R.;
- Perlman, Susan L.;
- Packwood, James W.;
- Kark, R. A. Pieter
Publication type:
Article

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