Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

Authors: Andzelm, Milena M., Balasubramaniam, Shanti, Yang, Edward, Compton, Alison G., Millington, Kate, Zhu, Jia, Anselm, Irina, Rodan, Lance H., Thorburn, David R., Christodoulou, John, Srivastava, Siddharth

Source: JIMD reports. 63(5):391-399

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Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Authors: Ivaniuk, Alina, Anselm, Irina A., Bowen, Aaron, Cohen, Bruce H., Eminoglu, Fatma Tuba, Estrella, Jane, Gallagher, Renata C., Ganetzky, Rebecca D., Gannon, Jennifer, Gorman, Grainne S., Greene, Carol, Gropman, Andrea L., Haas, Richard H., Hirano, Michio, Kapoor, Seema, Karaa, Amel, Koenig, Mary Kay, Kornblum, Cornelia, Kose, Engin, Larson, Austin

Source: Neurology; 2/25/2025, Vol. 104 Issue 4, p1-13, 13p

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

Authors: Farmer, Cristan A., Kaat, Aaron J., Thurm, Audrey, Anselm, Irina, Akshoomoff, Natacha, Bennett, Amanda, Berry, Leandra, Bruchey, Aleksandra, Barshop, Bruce A., Berry-Kravis, Elizabeth, Bianconi, Simona, Cecil, Kim M., Davis, Robert J., Ficicioglu, Can, Porter, Forbes D., Wainer, Allison, Goin-Kochel, Robin P., Leonczyk, Caroline, Guthrie, Whitney, Koeberl, Dwight, Love-Nichols, Jamie, Mamak, Eva, Mercimek-Andrews, Saadet, Thomas, Rebecca P., Spiridigliozzi, Gail A., Sullivan, Nancy, Sutton, Vernon R., Udhnani, Manisha D., Waisbren, Susan E., Miller, Judith S.

Source: American Journal on Intellectual and Developmental Disabilities. Nov 2020 125(6):475-480.

Peer Reviewed: Y

Page Count: 6

Descriptors: Developmental Disabilities, Norm Referenced Tests, Scores, Ability, Autism, Pervasive Developmental Disorders, Standardized Tests, Item Response Theory

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Authors: Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.

Source: In The American Journal of Human Genetics 2 April 2020 106(4):484-495

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Authors: Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

Source: American journal of human genetics. 107(2):352-363

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5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

Authors: Rodan, Lance H., Qi, Wanshu, Ducker, Gregory S., Demirbas, Didem, Laine, Regina, Yang, Edward, Walker, Melissa A., Eichler, Florian, Rabinowitz, Joshua D., Anselm, Irina, Berry, Gerard T.

Source: In Molecular Genetics and Metabolism September 2018 125(1-2):118-126

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

Authors: Demirbas, Didem, Harris, David J., Arn, Pamela H., Huang, Xiaoping, Waisbren, Susan E., Anselm, Irina, Lerner‐Ellis, Jordan P., Wong, Lee‐Jun, Levy, Harvey L., Berry, Gerard T.

Source: JIMD reports. 46(1):63-69

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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Authors: Parikh, Sumit, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Anselm, Irina, Brunel-Guitton, Catherine, Christodoulou, John, Cohen, Bruce H, Dimmock, David, Enns, Gregory M, Falk, Marni J, Feigenbaum, Annette, Frye, Richard E, Ganesh, Jaya, Griesemer, David, Haas, Richard, Horvath, Rita, Korson, Mark, Kruer, Michael C, Mancuso, Michelangelo, McCormack, Shana, Raboisson, Marie Josee, Reimschisel, Tyler, Salvarinova, Ramona, Saneto, Russell P, Scaglia, Fernando, Shoffner, John, Stacpoole, Peter W, Sue, Carolyn M, Tarnopolsky, Mark, Van Karnebeek, Clara, Wolfe, Lynne A, Cunningham, Zarazuela Zolkipli, Rahman, Shamima, Chinnery, Patrick F

Source: In Genetics in Medicine December 2017 19(12):1380-1397

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Authors: Huang, Xiaoping, Bedoyan, Jirair K., Demirbas, Didem, Harris, David J., Miron, Alexander, Edelheit, Simone, Grahame, George, DeBrosse, Suzanne D., Wong, Lee-Jun, Hoppel, Charles L., Kerr, Douglas S., Anselm, Irina, Berry, Gerard T.

Source: In Molecular Genetics and Metabolism March 2017 120(3):213-222

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

Authors: Ebrahimi‐Fakhari, Darius, Hildebrandt, Clara, Davis, Peter E., Rodan, Lance H., Anselm, Irina, Bodamer, Olaf

Source: Movement disorders clinical practice. 5(2):149-155

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5, 10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

Authors: Rodan, Lance H., Qi, Wanshu, Ducker, Gregory S., Demirbas, Didem, Laine, Regina, Yang, Edward, Walker, Melissa A., Eichler, Florian, Rabinowitz, Joshua D., Anselm, Irina, Berry, Gerard T.

Source: Molecular genetics and metabolism. 125(1-2):118-126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100068299103.0x000001&indx=1&recIds=ETOCvdc_100068299103.0x000001

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Authors: Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H., Falk, Marni J., Greene, Carol, Gropman, Andrea L., Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L.K., Wolfe, Lynne, DiMauro, Salvatore

Source: In Genetics in Medicine September 2015 17(9):689-701

Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

Authors: Hwu, Paul Wuh‐Liang, Kiening, Karl, Anselm, Irina, Compton, David R, Nakajima, Takeshi, Opladen, Thomas, Pearl, Phillip L, Roubertie, Agathe, Roujeau, Thomas, Muramatsu, Shin‐ichi

Source: EMBO molecular medicine. 13(9)

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Brain involvement in Charcot–Marie–Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation

Authors: Al-Ghamdi, Fouad, Anselm, Irina, Yang, Edward, Ghosh, Partha S.

Source: NEUROMUSCULAR DISORDERS. 27(9):848-851

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De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria

Authors: Rodan, Lance H., El Achkar, Christelle Moufawad, Berry, Gerard T., Poduri, Annapurna, Prabhu, Sanjay P., Yang, Edward, Anselm, Irina

Source: Journal of child neurology. 32(1):127-131

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Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

Authors: Anselm, Irina, Collins, Abigail, Cohen, Bruce H., DeBrosse, Suzanne D., Dimmock, David, Falk, Marni J., Ganesh, Jaya, Greene, Carol, Gropman, Andrea L., Haas, Richard, Kahler, Stephen G., Kamholz, John, Kendall, Fran, Korson, Mark S., Mattman, Andre, Milone, Margherita, Niyazov, Dmitriy, Pearl, Phillip L., Reimschisel, Tyler, Salvarinova-Zivkovic, Ramona, Sims, Katherine, Tarnopolsky, Mark, Tsao, Chang-Yong, van Hove, Johan, Walsh, Laurence, Wolfe, Lynne A., Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell

Source: In Mitochondrion January 2014 14:26-33

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series

Authors: Dy, Marisela E., Chang, Florence C. F., De Jesus, Sol, Anselm, Irina, Mahant, Neil, Zeilman, Pamela, Rodan, Lance H., Foote, Kelly D., Tan, Wen-Hann, Eskandar, Emad

Source: Journal of child neurology. 31(8):1027-1035

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Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature

Authors: Calderwood, Laurel, Holm, Ingrid A., Teot, Lisa A., Anselm, Irina

Source: Journal of child neurology. 31(2):190-194

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN606043775&indx=1&recIds=ETOCRN606043775

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

Authors: Anselm, Irina, Collins, Abigail, Cohen, Bruce H., DeBrosse, Suzanne D., Dimmock, David, Falk, Marni J., Ganesh, Jaya, Greene, Carol, Gropman, Andrea L., Haas, Richard, Kahler, Stephen G., Kamholz, John, Kendall, Fran, Korson, Mark S., Mattman, Andre, Milone, Margherita, Niyazov, Dmitriy, Pearl, Phillip L., Reimschisel, Tyler, Salvarinova-Zivkovic, Ramona, Sims, Katherine, Tarnopolsky, Mark, Tsao, Chang-Yong, van Hove, Johan, Walsh, Laurence, Wolfe, Lynne A., Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell

Source: In Mitochondrion November 2013 13(6):681-687

Response to Newman et al.

Authors: Parikh, Sumit, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Anselm, Irina, Brunel-Guitton, Catherine, Christodoulou, John, Cohen, Bruce H, Dimmock, David, Enns, Gregory M, Falk, Marni J, Feigenbaum, Annette, Frye, Richard E, Ganesh, Jaya, Griesemer, David, Haas, Richard, Horvath, Rita, Korson, Mark, Kruer, Michael C, Mancuso, Michelangelo, McCormack, Shana, Josee Raboisson, Marie, Reimschisel, Tyler, Salvarinova, Ramona, Saneto, Russell P, Scaglia, Fernando, Shoffner, John, Stacpoole, Peter W, Sue, Carolyn M, Tarnopolsky, Mark, Van Karnebeek, Clara, Wolfe, Lynne A, Zolkipli Cunningham, Zarazuela, Rahman, Shamima, Chinnery, Patrick F

Source: In Genetics in Medicine December 2017 19(12):1380-1381