Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Authors: Mo, Alisa, Saffari, Afshin, Kellner, Melanie, Döbler‐Neumann, Marion, Jordan, Catherine, Srivastava, Siddharth, Zhang, Bo, Sahin, Mustafa, Fink, John K., Smith, Linsley, Posey, Jennifer E., Alter, Katharine E., Toro, Camilo, Blackstone, Craig, Soldatos, Ariane G., Christie, Michelle, Schüle, Rebecca, Ebrahimi‐Fakhari, Darius

Source: Movement disorders. 37(12):2440-2446

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168950583.0x000001&indx=1&recIds=ETOCvdc_100168950583.0x000001

Chapter 10 - The hereditary spastic paraplegias

Authors: Fink, John K.

Source: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:183-212

The clinical spectrum of primary lateral sclerosis

Authors: Barohn, Richard J., Fink, John K., Heiman-Patterson, Terry, Huey, Edward D., Murphy, Jennifer, Statland, Jeffrey M., Turner, Martin R., Elman, Lauren

Source: Amyotrophic lateral sclerosis and frontotemporal degeneration. 21(S1):3-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115840817.0x000001&indx=1&recIds=ETOCvdc_100115840817.0x000001

An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome

Authors: Dhoot, Roshni, Payne, Katelyn, Fink, John K., Pascuzzi, Robert M.

Source: Case reports in neurology. 12(2):165-168

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107510701.0x000001&indx=1&recIds=ETOCvdc_100107510701.0x000001

Chapter 16 - Ataxia and spasticity

Authors: Fink, John K.

Source: In Neurogenetics for the Practitioner 2024:237-268

List of Contributors

Authors: Abbink, Truus E.M., Abdallah, Sarah B., Agin-Liebes, Julian, Bachoo, Robert M., Baek, Peter, Baranzini, Sergio E., Bear, Lauren, Biglan, Kevin, Bloch, Michael H., Bonnet, Wilmot, Brady, Melanie, Brandsema, John F., Broccolini, Aldobrando, Brown, Robert H., Cohen, Bernard, Cole, Jordan J., Comi, Anne M., Crabbe, John C., Darras, Basil T., Delia, Domenico, Doran, Sarah, Dowling, Michael M., Dunn, Walter, Elsheikh, Bakri, Engel, Andrew G., Fahn, Stanley, Fasching, Liana, Fears, Scott C., Felling, Ryan J., Fernandez, Thomas V., Ferner, Rosalie E., Fink, John K., Gellera, Cinzia, Gillespie, Charles F., Goldman, Alica M., Gospe, Sidney M., Jr., Gu, Yian, Gutmann, David H., Hadziamehtovic, Una, Hauser, Stephen L., Hilbert, James E., Hosoi, Yasushi, Ibrahim, Ahmed N., Iliopoulos, Othon, Islam, Monica P., Jenkins, Aaron K., Jia, Xiaoming, Jungbluth, Heinz, Kane, John P., Katz, Natalie K., Kayani, Saima N., Kirkham, Fenella J., Kirkorian, A. Yasmine, Kissel, John T., Klein, Christine, Kleopa, Kleopas A., Kolb, Stephen J., Konstantakou, Evmorfia, Kruer, Michael C., Lambracht-Washington, Doris, Larson, Austin, Lee, Joseph H., Lewis, David A., Liang, Wen-Chen, Lin, Ziqiang, Lohmann, Katja, Lombroso, Paul, Lucchini, Matteo, Maher, Elizabeth A., Malloy, Mary J., Manoli, Irini, Marin-Valencia, Isaac, Marshall, Fred, Mayeux, Richard, McGarry, Andrew, Menkes, John H., Meola, Giovanni, Miller, Bruce L., Mirabella, Massimiliano, Miyajima, Hiroaki, Mizutani, Shuki, Mole, Sara E., Moxley, Richard T., III, Nemeroff, Charles B., Nemeth, Christina, Nishino, Ichizo, Noebels, Jeffrey L., Nordlie, Sandra M.H., Oksenberg, Jorge R., Oldfors, Anders, Olfson, Emily, Padilla-Lopez, Sergio, Pandolfo, Massimo, Pascual, Juan M., Patel, Shailendra B., Pena, Izabella A., Ptáček, Louis, Ralph, Jeffrey, Reilly, Mary M., Renthal, William, Reus, Victor I., Roach, E. Steve, Rosenberg, Roger N., Rosenblatt, David S., Rossor, Alexander M., Salen, Gerald, Savarese, Antonia M., Sawyer, Russell P., Scherer, Steven S., Schneider, Susanne A., Schulz, Angela, Selcen, Duygu, Shakkottai, Vikram G., Solomon, Chase, Sreedharan, Jemeen, Statland, Jeffrey M., Taroni, Franco, Tuschl, Karin, Udd, Bjarne, Umaña, Luis Alfredo, Vaccarino, Flora M., van der Knaap, Marjo S., van Karnebeek, Clara, Venditti, Charles P., Voermans, Nicol C., Volk, David W., Waldrop, Megan A., Watkins, David, Wilson, Golder N., Wilson, Kathleen S., Xia, Weiming, Yu, Gang

Source: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:xvii-xxi

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Authors: Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.

Source: In The American Journal of Human Genetics 7 August 2014 95(2):143-161

Chapter 3 - The hereditary spastic paraplegias

Authors: Fink, John K. ^*

Source: In Handbook of Clinical Neurology 2023 196:59-88

Neuropathy target esterase (NTE): overview and future

Authors: Richardson, Rudy J., Hein, Nichole D., Wijeyesakere, Sanjeeva J., Fink, John K., Makhaeva, Galina F.

Source: In Chemico-Biological Interactions 25 March 2013 203(1):238-244

Contributors

Authors: Baek, Rena C., Bonardo, Pablo, Brady, Philip, Butterfield, Russell J., Calame, Daniel G., Chung, Wendy K., Cohen, Bernard A., Corvin, Aiden, Daich Varela, Malena, de Boer, Irene, Dyment, David A., Eratne, Dhamidhu, Fassad, Mahmoud R., Federico, Antonio, Fink, John K., Finn, Patrick F., Georgiou, Michalis, Gill, Pritmohinder S., Heron, Elizabeth, Huq, Aamira J., Jinnah, H.A., Kernohan, Kristin D., Kim, Jong-Won, Kinariwalla, Neha, Koleilat, Alaa, Lawrence, Chloe J., Lequin, Maarten, Li, Hong, Lin, Ava Yun, Lupski, James R., Lynch, David S., Manberg, Stephanie, Marafi, Dana, Martini, Paolo G.V., Matthews, Emma, McFarland, Robert, Menkovic, Iskren, Michaelides, Michel, Millington, David S., Muthusamy, Karthik, Oegema, Renske, Ormond, Cathal, Park, Helen H., Park, Kyung Sun, Pastores, Gregory M., Patel, Krutik, Porter-Gill, Patricia A., Reisin, Ricardo, Rule, Don, Ryan, Niamh, Scarpa, Maurizio, Schimmenti, Lisa A., Schottlaender, Lucía, Tay, Stacey K.H., Taylor, Robert W., Terwindt, Gisela M., van den Maagdenberg, Arn M.J.M., Velakoulis, Dennis, Vengoechea, Jaime, Wade, Charles, Wagner, Matias, Wang, Leo H., Wortmann, Saskia B., Younger, David S., Yu, Feliciano B., Jr., Ziegler, Alban C.

Source: In Neurogenetics for the Practitioner 2024:xiii-xv

Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine

Authors: Brewer, George J., Askari, Fred, Dick, Robert B., Sitterly, Julia, Fink, John K., Carlson, Martha, Kluin, Karen J., Lorincz, Matthew T.

Source: In Translational Research 2009 154(2):70-77

Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin II. The denture cream is a primary source of excessive zinc

Authors: Hedera, Peter, Peltier, Amanda, Fink, John K., Wilcock, Sandy, London, Zachary, Brewer, George J.

Source: In Neurotoxicology 2009 30(6):996-999

Correction of Glucocerebrosidase Deficiency after Retroviral-Mediated Gene Transfer into Hematopoietic Progenitor Cells from Patients with Gaucher Disease

Authors: Fink, John K., Correll, Pamela H., Perry, Leland K., Brady, Roscoe O., Karlsson, Stefan

Source: Proceedings of the National Academy of Sciences of the United States of America, 1990 Mar 01. 87(6), 2334-2338.

Access URL: https://www.jstor.org/stable/2354045

Production of Human Glucocerebrosidase in Mice after Retroviral Gene Transfer into Multipotential Hematopoietic Progenitor Cells

Authors: Correll, Pamela H., Fink, John K., Brady, Roscoe O., Perry, Leland K., Karlsson, Stefan

Source: Proceedings of the National Academy of Sciences of the United States of America, 1989 Nov . 86(22), 8912-8916.

Access URL: https://www.jstor.org/stable/34988

Compositions and methods for detecting and treating neurological conditions

Methods for diagnosing episodic movement disorders and related conditions

Hereditary Spastic Paraplegia

Authors: Fink, John K

Source: Emery and Rimoin’s Essential Medical Genetics. 2013, p447-453.

Chapter One - Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN)

Authors: Richardson, Rudy J., Fink, John K., Glynn, Paul, Hufnagel, Robert B., Makhaeva, Galina F., Wijeyesakere, Sanjeeva J.

Source: In Advances in Neurotoxicology 2020 4:1-78

Chapter 58 - Neuropathy target esterase as a biomarker and biosensor of delayed neuropathic agents

Authors: Richardson, Rudy J., Fink, John K., Worden, R. Mark, Wijeyesakere, Sanjeeva J. ^*, Makhaeva, Galina F.

Source: In Handbook of Toxicology of Chemical Warfare Agents Edition: Third Edition. 2020:1005-1025

Chapter 10 - The hereditary spastic paraplegias

Authors: Fink, John K.

Source: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease Edition: Sixth Edition. 2020:147-170