Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Susan L. Perlman"'
Autor:
Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M. Bhatt, Caterina Caputi, Emilia Cirillo, David J. Coman, Gregor Dückers, Donald L. Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L. Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler‐Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P. Whitehouse, Robert A. Dineen
Publikováno v:
Cancer Medicine, Vol 12, Iss 13, Pp 14663-14673 (2023)
Abstract Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A
Externí odkaz:
https://doaj.org/article/4112859666704ce9a8573dfbcefab340
Autor:
Susan L. Perlman
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 10, Iss , Pp 100255- (2024)
The genetic ataxias have no cures and no proven ways to delay progression (no disease-modifying therapies). The acquired ataxias may have treatments that address the underlying cause and may slow or stop progression, but will not reverse damage alrea
Externí odkaz:
https://doaj.org/article/0c44f1bcc6d549d091adf8e3133aa6a5
Autor:
Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio
Publikováno v:
Disease Models & Mechanisms, Vol 5, Iss 6, Pp 860-869 (2012)
SUMMARY Friedreich’s ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes. FRDA is caused
Externí odkaz:
https://doaj.org/article/1b4609d7de1d4f47ae9e010f40dc8b22
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications
Autor:
Louisa P. Selvadurai, Susan L. Perlman, George R. Wilmot, Sub H. Subramony, Christopher M. Gomez, Tetsuo Ashizawa, Henry L. Paulson, Chiadi U. Onyike, Liana S. Rosenthal, Haris I. Sair, Sheng-Han Kuo, Eva-Maria Ratai, Theresa A. Zesiewicz, Khalaf O. Bushara, Gülin Öz, Cameron Dietiker, Michael D. Geschwind, Alexandra B. Nelson, Puneet Opal, Talene A. Yacoubian, Peggy C. Nopoulos, Vikram G. Shakkottai, Karla P. Figueroa, Stefan M. Pulst, Peter E. Morrison, Jeremy D. Schmahmann
Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders, but there is no metric that predicts disease severity over time. We hypothesized that by developing a new metric, the Severity Factor (S-Factor) using immutable disease param
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d9f84d79ecb1e743ffa267784f9f2c4
https://escholarship.org/uc/item/798300bm
https://escholarship.org/uc/item/798300bm
Autor:
Suman Dutta, Simon Hornung, Adira Kruayatidee, Katherine M Maina, Irish del Rosario, Kimberly Paul, Jose Alberto Palma, Susan L. Perlman, Wayne W. Poon, Karen H Gylys, Horacio Kaufmann, Brent L. Fogel, Jeff M. Bronstein, Beate Ritz, Gal Bitan
Publikováno v:
Alzheimer's & Dementia. 17
Autor:
Susan L. Perlman
Publikováno v:
Current Clinical Neurology ISBN: 9783319978963
A patient with genetically confirmed spinocerebellar ataxia (type 2) presented with a 6-year history of progressive trunk and upper extremity action tremor with a rotatory component. The tremor interfered with many activities of daily living. Adaptiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1afb023b8429339ec3fe552ff3d35882
https://doi.org/10.1007/978-3-319-97897-0_42
https://doi.org/10.1007/978-3-319-97897-0_42
Autor:
Charles A, Galea, Aamira, Huq, Paul J, Lockhart, Geneieve, Tai, Louise A, Corben, Eppie M, Yiu, Lyle C, Gurrin, David R, Lynch, Sarah, Gelbard, Alexandra, Durr, Francoise, Pousset, Michael, Parkinson, Robyn, Labrum, Paola, Giunti, Susan L, Perlman, Martin B, Delatycki, Marguerite V, Evans-Galea
Publikováno v:
Annals of neurology. 79(3)
Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy. Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96% of affected individuals and reduce frataxin expressi
Autor:
Susan L, Perlman
Publikováno v:
Clinics in Geriatric Medicine. 22:859-877
Gait disorders in elderly individuals are a major cause of falls and their attendant morbidities. Ataxia is one of the neurologic components of fall risk, as are inattention or confusion, visual impairment, vestibular impairment, subcortical white ma
Autor:
Susan L, Perlman
Publikováno v:
Handbook of clinical neurology. 103
Publikováno v:
Handbook of clinical neurology. 103