Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Authors: Laróvere, Laura E., Fairbanks, Lynette D., Jinnah, H. A., Guelbert, Norberto B., Escuredo, Emilia, Becerra, Adriana, Kremer, Raquel Dodelson de

Source: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

Subject Terms: Hypoxanthine-guanine phosphoribosyltransferase deficiency, hyperuricemia, Lesch-Nyhan disease, Lesch-Nyhan variant, HPRT1 mutation

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100304

Uric Acid in Parkinson′s Disease: What Is the Connection?

Authors: Seifar, Fatemeh, Dinasarapu, Ashok R., Jinnah, H. A.

Source: Movement disorders. 37(11):2173-2183

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165328231.0x000001&indx=1&recIds=ETOCvdc_100165328231.0x000001

Abnormalities of neural stem cells in Lesch–Nyhan disease

Authors: Dinasarapu, Ashok R., Sutcliffe, Diane J., Seifar, Fatemeh, Visser, Jasper E., Jinnah, H. A.

Source: Journal of neurogenetics. 36(2-3):81-87

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Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease

Authors: López, José M., Outtrim, Esther L., Fu, Rong, Sutcliffe, Diane J., Torres, Rosa J., Jinnah, H. A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2020 Jun 01. 117(22), 12071-12079.

Access URL: https://www.jstor.org/stable/26931250

A digital patient-centered outcome tool for cervical dystonia.

Authors: Richardson, Sarah Pirio, Berman, Brian D., Hieshetter, Janet, Comella, Cynthia, Peterson, David A., Kilic-Berkmen, Gamze, Wright, Laura, Pentecost, Samantha, Reyes, Paul, Jankovic, Joseph, Adler, Charles H., Tijssen, Marina A. J., Kimberley, Teresa J., Benson, Monika, Perlmutter, Joel S., Qeadan, Fares, Jinnah, H. A.

Source: Dystonia (2813-2106); 2024, p1-10, 10p

Subject Terms: CERVICAL intraepithelial neoplasia, FOCAL dystonia, PRODUCT elimination, HEALTH outcome assessment, PATIENT advocacy, BOTULINUM toxin

Company/Entity: UNITED States. Food & Drug Administration

Soft Nanomembrane Sensors and Flexible Hybrid Bioelectronics for Wireless Quantification of Blepharospasm

Authors: Mahmood, Musa, Kwon, Shinjae, Berkmen, Gamze Kilic, Kim, Yun-Soung, Scorr, Laura, Jinnah, H. A., Yeo, Woon-Hong

Source: IEEE transactions on bio-medical engineering. 67(11):3094-3100

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Blood‐Based Proteomics for Adult‐Onset Focal Dystonias.

Authors: Timsina, Jigyasha, Dinasarapu, Ashok, Kilic‐Berkmen, Gamze, Budde, John, Sung, Yun Ju, Klein, Adam M., Cruchaga, Carlos, Jinnah, H. A.

Source: Annals of Neurology; Jul2024, Vol. 96 Issue 1, p110-120, 11p

Subject Terms: MOVEMENT disorders, FOCAL dystonia, PROTEOMICS, BLOOD proteins, ION transport (Biology), BLOOD plasma

Dopamine Receptor Agonist Treatment of Idiopathic Dystonia: A Reappraisal in Humans and Mice

Authors: Fan, Xueliang, Donsante, Yuping, Jinnah, H. A, Hess, Ellen J ^*

Source: In The Journal of Pharmacology and Experimental Therapeutics April 2018 365(1):20-26

New approaches to discovering drugs that treat dystonia

Authors: Pirio Richardson, Sarah, Jinnah, H. A.

Source: Expert opinion on drug discovery. 14(9):893-900

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100102912285.0x000001&indx=1&recIds=ETOCvdc_100102912285.0x000001

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

Authors: Marshall, Randall, Collins, Abigail, Escolar, Maria, Jinnah, H., Klopstock, Thomas, Kruer, Michael, Videnovic, Aleksandar, Robichaux-Viehoever, Amy, Burns, Colleen, Swett, Laura, Revicki, Dennis, Bender, Randall, Lenderking, William

Source: Orphanet journal of rare diseases. 14(1):1-12

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189285389.0x000001&indx=1&recIds=ETOCvdc_100189285389.0x000001

The Dystonias

Authors: Jinnah, H. A.

Source: Continuum. 25(4):976-1000

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100086588477.0x000001&indx=1&recIds=ETOCvdc_100086588477.0x000001

Macrocytic anemia in Lesch–Nyhan disease and its variants

Authors: Cakmakli, Hasan, Torres, Rosa, Menendez, Araceli, Yalcin-Cakmakli, Gul, Porter, Christopher, Puig, Juan, Jinnah, H.

Source: Genetics in medicine. 21(2):353-360

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100112263132.0x000001&indx=1&recIds=ETOCvdc_100112263132.0x000001

An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm.

Authors: Kilic-Berkmen, Gamze, Hodam Kim, Dongdong Chen, Yeo, Cameron I., Dinasarapu, Ashok R., Scorr, Laura M., Woon-Hong Yeo, Peterson, David A., Williams, Hilde, Ruby, April, Mills, Roger, Jinnah, H. A.

Source: Movement Disorders; Apr2024, Vol. 39 Issue 4, p738-745, 8p

Calcium Channel Activation and Self-Biting in Mice

Authors: Jinnah, H. A., Yitta, S., Drew, T., Kim, B. S., Visser, J. E., Rothstein, J. D.

Source: Proceedings of the National Academy of Sciences of the United States of America, 1999 Dec . 96(26), 15228-15232.

Access URL: https://www.jstor.org/stable/121236

Cervical dystonia and substance abuse

Authors: Mahajan, Abhimanyu, Jankovic, Joseph, Marsh, Laura, Patel, Achint, Jinnah, H. A., Comella, Cynthia, Barbano, Richard, Perlmutter, Joel, Patel, Neepa

Source: Journal of neurology. 265(4):970-975

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Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia

Authors: Scorr, Laura M., Silver, Michael R., Hanfelt, John, Sperin, Elaine, Freeman, Alan, Jinnah, H. A., Factor, Stewart A.

Source: Neurotherapeutics. 15(2):452-458

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130467441.0x000001&indx=1&recIds=ETOCvdc_100130467441.0x000001

Effects of botulinum neurotoxin on regularity of head oscillations in cervical dystonia.

Authors: Agharazi, Hanieh¹, Jinnah, H. A.², Zee, David S.³, Shaikh, Aasef G.^1,4,5 aasef.shaikh@case.edu

Source: Dystonia (2813-2106). 2024, p1-11. 11p.

Subject Terms: *NEUROTOXIC agents, *DYSTONIA, *TREMOR, *ELECTROMAGNETS, *PROPRIOCEPTION

Longitudinal predictors of health-related quality of life in isolated dystonia.

Authors: Junker, Johanna, Hall, James, Berman, Brian D., Vidailhet, Marie, Roze, Emmanuel, Bäumer, Tobias, Malaty, Irene A., Shukla, Aparna Wagle, Jankovic, Joseph, Reich, Stephen G., Espay, Alberto J., Duque, Kevin R., Patel, Neepa, Perlmutter, Joel S., Jinnah, H. A., Brandt, Valerie, Brüggemann, Norbert

Source: Journal of Neurology; Feb2024, Vol. 271 Issue 2, p852-863, 12p

Subject Terms: ANXIETY disorders, QUALITY of life, MENTAL health services, DYSTONIA, BOTULINUM toxin, SOCIAL anxiety

Alterations of resting‐state fMRI measurements in individuals with cervical dystonia

Authors: Li, Zhihao, Prudente, Cecília N., Stilla, Randall, Sathian, K., Jinnah, H. A., Hu, Xiaoping

Source: Human brain mapping. 38(8):4098-4108

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084062727.0x000001&indx=1&recIds=ETOCvdc_100084062727.0x000001

Blepharospasm 40 years later

Authors: Defazio, G., Hallett, M., Jinnah, H. A., Conte, A., Berardelli, A.

Source: MOVEMENT DISORDERS -NEW YORK-. 32(4):498-509

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN384050357&indx=1&recIds=ETOCRN384050357