Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)

Authors: Gavazzi, Francesco, Pierce, Samuel R., Vithayathil, Joseph, Cunningham, Kristin, Anderson, Kim, McCann, Jacob, Moll, Ashley, Muirhead, Kayla, Sherbini, Omar, Prange, Erin, Dubbs, Holly, Tochen, Laura, Fraser, Jamie, Helbig, Ingo, Lewin, Naomi, Thakur, Nivedita, Adang, Laura A.

Source: Molecular genetics and metabolism. 137(1-2):26-32

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176747789.0x000001&indx=1&recIds=ETOCvdc_100176747789.0x000001

The Phenomenology of Tics and Tic-Like Behavior in TikTok

Authors: Zea Vera, Alonso, Bruce, Adrienne, Garris, Jordan, Tochen, Laura, Bhatia, Poonam, Lehman, Rebecca K., Lopez, Wendi, Wu, Steve W., Gilbert, Donald L.

Source: Pediatric neurology. 130:14-20

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161076935.0x000001&indx=1&recIds=ETOCvdc_100161076935.0x000001

Incidence of acute rheumatic fever in northern and western Uganda: a prospective, population-based study

Authors: Okello, Emmy, Ndagire, Emma, Muhamed, Babu, Sarnacki, Rachel, Murali, Meghna, Pulle, Jafesi, Atala, Jenifer, Bowen, Asha C, DiFazio, Marc P, Nakitto, M G, Harik, Nada S, Kansiime, Rosemary, Longenecker, Chris T, Lwabi, Peter, Agaba, Collins, Norton, Scott A, Omara, Isaac Otim, Oyella, Linda Mary, Parks, Tom, Rwebembera, Joselyn, Spurney, Christopher F, Stein, Elizabeth, Tochen, Laura, Watkins, David, Zimmerman, Meghan, Carapetis, Jonathan R, Sable, Craig A, Beaton, Andrea

Source: Lancet.Global health. 9(10):e1423-e1430

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139933932.0x000001&indx=1&recIds=ETOCvdc_100139933932.0x000001

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

Authors: Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐Vela, Marta, Escolar, Maria L., Fraser, Jamie L., Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder A., Kmiec, Tomasz, Lang, Anthony, Martí, Maria J., Mercimek‐Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., Perez‐Dueñas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas‐Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas

Source: Movement disorders. 36(6):1342-1352

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122940724.0x000001&indx=1&recIds=ETOCvdc_100122940724.0x000001

Biallelic Variants in COQ4 Cause Childhood‐Onset Pure Hereditary Spastic Paraplegia.

Authors: Schierbaum, Luca, Quiroz, Vicente, Tam, Amy, Zubair, Umar, Tochen, Laura, Srouji, Rasha, Yang, Kathryn, Ebrahimi‐Fakhari, Darius

Source: Movement Disorders Clinical Practice; Dec2024, Vol. 11 Issue 12, p1620-1624, 5p

Subject Terms: FAMILIAL spastic paraplegia, MOVEMENT disorders, NEUROLOGICAL disorders, PERIPHERAL nervous system, EXTRAPYRAMIDAL disorders

Markers of impaired motor and cognitive volition in Parkinson's disease: Correlates of dopamine dysregulation syndrome, impulse control disorder, and dyskinesias

Authors: Hinkle, Jared T., Perepezko, Kate, Rosenthal, Liana S., Mills, Kelly A., Pantelyat, Alexander, Mari, Zoltan, Tochen, Laura, Bang, Jee Yun, Gudavalli, Medha, Yoritomo, Nadine, Butala, Ankur, Bakker, Catherine C., Johnson, Vanessa, Moukheiber, Emile, Dawson, Ted M., Pontone, Gregory M.

Source: In Parkinsonism and Related Disorders February 2018 47:50-56

Hodgkin lymphoma in an individual with TREX1‐mediated Aicardi Goutières syndrome

Authors: Gavazzi, Francesco, Fraser, Jamie L., Bloom, Miriam, Tochen, Laura, Rhee, Jullie, Kwan, Megan, Victoria, Teresa, Teachey, David T., Ho, Cheng‐Ying, Vanderver, Adeline, Linn, Rebecca L.

Source: Pediatric blood & cancer. 69(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135610457.0x000001&indx=1&recIds=ETOCvdc_100135610457.0x000001

P356: Overlapping movement disorder phenotypes are a hallmark of leukoencephalopathy with calcifications and cysts

Authors: Tochen, Laura, Harmon, Jennifer, Schroeder, Jason, Fraser, Jamie

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P021: Expansion of the phenotype of thiamine pyrophosphokinase deficiency: A treatable cause of Leigh disease, includes severe neuronopathic disease

Authors: Harmon, Jennifer, Fortin, Olivier, Schroeder, Jason, Tochen, Laura, Fraser, Jamie

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Anomalous Putamen Volume in Children With Complex Motor Stereotypies

Authors: Mahone, E. Mark, Crocetti, Deana, Tochen, Laura, Kline, Tina, Mostofsky, Stewart H., Singer, Harvey S.

Source: In Pediatric Neurology December 2016 65:59-63

Limitations of Multigene Next-Generation Sequencing Panel for “Cerebral Palsy” Phenotype and Other Complex Movement Disorders

Authors: Eskandar, Marina, Tochen, Laura, Shin, Mi Ran, Lavenstein, Bennett, Meltzer, Meira, Gropman, Andrea, Sen, Kuntal

Source: In Pediatric Neurology December 2023 149:15-18

P187: A clinical-translational model of leukoencephalopathy with calcifications and cysts*

Authors: Harmon, Jennifer, Pierce, Brianna, Rhee, Jullie, Kroll, Kyle, Chau, Nhu, Whitehead, Matthew, Tochen, Laura, Fraser, Jamie

Source: In Genetics in Medicine Open 2023 1(1) Supplement

A multi-disciplinary clinic for SCN8A-related epilepsy

Authors: Schreiber, John M, Tochen, Laura, Brown, Mackenzie, Evans, Sarah, Ball, Laura J, Bumbut, Adrian, Thewamit, Rapeepat, Whitehead, Matthew T, Black, Chelsea, Boutzoukas, Emanuel, Fanto, Eleanor, Suslovic, William, Berl, Madison, Hammer, Michael, Gaillard, William D

Source: Epilepsy research. 159

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100095879362.0x000001&indx=1&recIds=ETOCvdc_100095879362.0x000001

Iatrogenic Exserohilum infection of the central nervous system: mycological identification and histopathological findings

Authors: Robert Bell, W, Dalton, Justin B, McCall, Chad M, Karram, Sarah, Pearce, David T, Memon, Warda, Lee, Richard, Carroll, Karen C, Lyons, Jennifer L, Gireesh, Elakkat D, Trivedi, Julie B, Cettomai, Deanna, Smith, Bryan R, Chang, Tiffany, Tochen, Laura, Ratchford, John N, Harrison, Daniel M, Ostrow, Lyle W, Stevens, Robert D, Chen, Li, Zhang, Sean X

Source: In Modern Pathology February 2013 26(2):166-170

Strain differences in the disruption of prepulse inhibition of startle after systemic and intra-accumbens amphetamine administration

Authors: Swerdlow, Neal R., Shoemaker, Jody M., Bongiovanni, Michele J., Neary, Alaina C., Tochen, Laura S., Saint Marie, Richard L.

Source: In Pharmacology, Biochemistry and Behavior 2007 87(1):1-10

Reduced startle gating after D1 blockade: Effects of concurrent D2 blockade

Authors: Swerdlow, Neal R., Shoemaker, Jody M., Bongiovanni, Michele J., Neary, Alaina C., Tochen, Laura S., Saint Marie, Richard L.

Source: In Pharmacology, Biochemistry and Behavior 2005 82(2):293-299

The Role of the Cerebellum in Repetitive Behavior Across Species: Childhood Stereotypies and Deer Mice.

Authors: Dean, Shannon L.^1,2 (AUTHOR) deans@kennedykrieger.org, Tochen, Laura^1,3 (AUTHOR), Augustine, Farhan^1,4 (AUTHOR), Ali, Syed F.^1,5 (AUTHOR), Crocetti, Deana² (AUTHOR), Rajendran, Shreenath¹ (AUTHOR), Blue, Mary E.^1,2 (AUTHOR), Mahone, E. Mark¹ (AUTHOR), Mostofsky, Stewart H.² (AUTHOR), Singer, Harvey S.^1,2 (AUTHOR)

Source: Cerebellum. Jun2022, Vol. 21 Issue 3, p440-451. 12p.

Subject Terms: *CEREBELLUM, *PEROMYSCUS maniculatus, *DENTATE nucleus, *GRAY matter (Nerve tissue), *WHITE matter (Nerve tissue)

Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome.

Authors: Berger, Seth I., Miller, Ilana, Tochen, Laura

Source: Pediatrics; Feb2022, Vol. 149 Issue 2, p1-4, 4p

98 - Tics and Tourette Syndrome

Authors: Tochen, Laura, Singer, Harvey S.

Source: In Swaiman's Pediatric Neurology Edition: Sixth Edition. 2017:e1673-e1689

Active Case Finding for Rheumatic Fever in an Endemic Country.

Authors: Okello, Emmy, Ndagire, Emma, Atala, Jenifer, Bowen, Asha C., DiFazio, Marc P., Harik, Nada S., Longenecker, Chris T., Lwabi, Peter, Murali, Meghna, Norton, Scott A., Omara, Isaac Otim, Oyella, Linda Mary, Parks, Tom, Pulle, Jafesi, Rwebembera, Joselyn, Sarnacki, Rachel J., Spurney, Christopher F., Stein, Elizabeth, Tochen, Laura, Watkins, David

Source: Journal of the American Heart Association; 8/4/2020, Vol. 9 Issue 15, p1-10, 10p