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2020

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Yan, K., Rousseau, J., Machol, K., Cross, L. A., Agre, K. E., Gibson, C. F., Goverde, A., Engleman, K. L., Verdin, H., de Baere, E., Potocki, L., Zhou, D., Cadieux-Dion, M., Bellus, G. A., Wagner, M. D., Hale, R. J., Esber, N., Riley, A. F., Solomon, B. D., Cho, M. T. & 12 others, McWalter, K., Eyal, R., Hainlen, M. K., Mendelsohn, B. A., Porter, H. M., Lanpher, B. C., Lewis, A. M., Savatt, J., Thiffault, I., Callewaert, B., Campeau, P. M. & Yang, X. J., Jan 22 2020, In : Science Advances. 6, 4, eaax0021.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Willemsen, M. H., Goel, H., Verhoeven, J. S., Braakman, H. M. H., de Leeuw, N., Freeth, A. & Minassian, B. A., Jun 1 2020, In : Epilepsia Open. 5, 2, p. 301-306 6 p.

Research output: Contribution to journalArticle

Open Access

From Genetic Testing to Precision Medicine in Epilepsy

Striano, P. & Minassian, B. A., Apr 1 2020, In : Neurotherapeutics. 17, 2, p. 609-615 7 p.

Research output: Contribution to journalArticle

2 Scopus citations

Management of Infantile Spasms During the COVID-19 Pandemic

Grinspan, Z. M., Mytinger, J. R., Baumer, F. M., Ciliberto, M. A., Cohen, B. H., Dlugos, D. J., Harini, C., Hussain, S. A., Joshi, S. M., Keator, C. G., Knupp, K. G., McGoldrick, P. E., Nickels, K. C., Park, J. T., Pasupuleti, A., Patel, A. D., Shahid, A. M., Shellhaas, R. A., Shrey, D. W., Singh, R. K. & 5 others, Wolf, S. M., Yozawitz, E. G., Yuskaitis, C. J., Waugh, J. L. & Pearl, P. L., 2020, (Accepted/In press) In : Journal of child neurology.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., Weng, C., Stefan, P. G., Ahlfors, H., Kleyner, R., Rope, A., Lumaka, A., Lukusa, P., Devriendt, K., Vermeesch, J., Posey, J. E., Palmer, E. E., Murray, L., Leon, E., Diaz, J. & 36 others, Worgan, L., Mallawaarachchi, A., Vogt, J., de Munnik, S. A., Dreyer, L., Baynam, G., Ewans, L., Stark, Z., Lunke, S., Gonçalves, A. R., Soares, G., Oliveira, J., Fassi, E., Willing, M., Waugh, J. L., Faivre, L., Riviere, J. B., Moutton, S., Mohammed, S., Payne, K., Walsh, L., Begtrup, A., Guillen Sacoto, M. J., Douglas, G., Alexander, N., Buckley, M. F., Mark, P. R., Adès, L. C., Sandaradura, S. A., Lupski, J. R., Roscioli, T., Agrawal, P. B., Kline, A. D., Wang, K., Timmers, H. T. M. & Lyon, G. J., Feb 1 2020, In : Human mutation. 41, 2, p. 449-464 16 p.

Research output: Contribution to journalArticle

1 Scopus citations

New-onset refractory status epilepticus in children: Etiologies, treatments, and outcomes*

Husari, K. S., Labiner, K., Huang, R. & Said, R. R., Jan 1 2020, (Accepted/In press) In : Pediatric Critical Care Medicine. p. 59-66 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

Recurrent TTN metatranscript-only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J. & 15 others, Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bönnemann, C. G., MacArthur, D. G., Davis, M. R. & Cooper, S. T., Feb 1 2020, In : Human mutation. 41, 2, p. 403-411 9 p.

Research output: Contribution to journalArticle

Response to treatment in pediatric ocular myasthenia gravis

Xu, L., Castro, D., Reisch, J. S. & Iannaccone, S. T., Feb 1 2020, In : Muscle and Nerve. 61, 2, p. 226-230 5 p.

Research output: Contribution to journalArticle

Risk of Intracranial Hemorrhage following Intravenous tPA (Tissue-Type Plasminogen Activator) for Acute Stroke Is Low in Children

Amlie-Lefond, C., Shaw, D. W. W., Cooper, A., Wainwright, M. S., Kirton, A., Felling, R. J., Abraham, M. G., MacKay, M. T., Dowling, M. M., Torres, M., Rivkin, M. J., Grabowski, E. F., Lee, S., Kurz, J. E., McMillan, H. J., Barry, D., Lee-Eng, J. & Ichord, R. N., 2020, (Accepted/In press) In : Stroke. p. 542-548 7 p.

Research output: Contribution to journalArticle

1 Scopus citations

Sexually Divergent Mortality and Partial Phenotypic Rescue after Gene Therapy in a Mouse Model of Dravet Syndrome

Niibori, Y., Lee, S. J., Minassian, B. A. & Hampson, D. R., Mar 2020, In : Human gene therapy. 31, 5-6, p. 339-351 13 p.

Research output: Contribution to journalArticle

Open Access

Spinal muscular atrophy care in the COVID-19 pandemic era

Veerapandiyan, A., Connolly, A. M., Finkel, R. S., Arya, K., Mathews, K. D., Smith, E. C., Castro, D., Butterfield, R. J., Parsons, J. A., Servais, L., Kuntz, N., Rao, V. K., Brandsema, J. F., Mercuri, E. & Ciafaloni, E., Jul 1 2020, In : Muscle and Nerve. 62, 1, p. 46-49 4 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Gentry, M. S., Afawi, Z., Armstrong, D. D., Delgado-Escueta, A., Goldberg, Y. P., Grossman, T. R., Guinovart, J. J., Harris, F., Hurley, T. D., Michelucci, R., Minassian, B. A., Sanz, P., Worby, C. A. & Serratosa, J. M., Feb 2020, In : Epilepsy and Behavior. 103, 106839.

Research output: Contribution to journalArticle

1 Scopus citations

The North Texas Concussion Registry (ConTex)

Cullum, C. M., Bunt, S., Hicks, C., Didehbani, N., Miller, S., Vargas, B., Sabo, T., Bell, K. & Batjer, H. H., Jan 2 2020, In : BMJ Open. 10, 1, e032345.

Research output: Contribution to journalArticle

Open Access

Two cases of aquaporin-4 positive neuromyelitis optica associated with T-cell lymphoma

Blackburn, K., Wang, C. & Greenberg, B., Jan 15 2020, In : Journal of Neuroimmunology. 338, 577092.

Research output: Contribution to journalArticle

2019
2 Scopus citations

Advances in Understanding Ischemic Stroke Physiology and the Impact of Vasculopathy in Children with Sickle Cell Disease

Guilliams, K. P., Fields, M. E. & Dowling, M. M., Jan 1 2019, In : Stroke. 50, 2, p. 266-273 8 p.

Research output: Contribution to journalArticle

6 Scopus citations

Advancing the pathologic phenotype of giant axonal neuropathy: Early involvement of the ocular lens

Armao, D., Bouldin, T. W., Bailey, R. M., Hooper, J. E., Bharucha, D. X. & Gray, S. J., Feb 1 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 27.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

A registration method for improving quantitative assessment in probabilistic diffusion tractography

Waugh, J. L., Kuster, J. K., Makhlouf, M. L., Levenstein, J. M., Multhaupt-Buell, T. J., Warfield, S. K., Sharma, N. & Blood, A. J., Apr 1 2019, In : NeuroImage. 189, p. 288-306 19 p.

Research output: Contribution to journalArticle

1 Scopus citations

Arterial Ischemic Stroke Secondary to Cardiac Disease in Neonates and Children

International Pediatric Stroke Study Investigators, Nov 2019, In : Pediatric Neurology. 100, p. 35-41 7 p.

Research output: Contribution to journalArticle

Arteriopathy Influences Pediatric Ischemic Stroke Presentation, but Sickle Cell Disease Influences Stroke Management

Guilliams, K. P., Kirkham, F. J., Holzhauer, S., Pavlakis, S., Philbrook, B., Amlie-Lefond, C., Noetzel, M. J., Dlamini, N., Sharma, M., Carpenter, J. L., Fox, C. K., Torres, M., Ichord, R. N., Jordan, L. C. & Dowling, M. M., May 1 2019, In : Stroke. 50, 5, p. 1089-1094 6 p.

Research output: Contribution to journalArticle

Characteristics and Outcome in Children With Craniectomy Following Acute Ischemic Stroke in the International Pediatric Stroke Study

on behalf of the International Pediatric Stroke Study Investigators, Jan 1 2019, In : Journal of child neurology.

Research output: Contribution to journalArticle

Characteristics of graduating US allopathic medical students pursuing a career in neurology

Gutmann, L., Cahill, C., Jordan, J. T., Gamaldo, C. E., Santini, V., Ali, I., Soni, M., Wilson, R. B., Said, R., Czeisler, B. M. & Smith, A. G., Apr 23 2019, In : Neurology. 92, 17, p. e2051-e2063

Research output: Contribution to journalArticle

4 Scopus citations

Clinical and genetic characteristics of childhood-onset myotonic dystrophy

Stokes, M., Varughese, N., Iannaccone, S. & Castro, D., Jan 1 2019, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

2 Scopus citations

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Palmer, E. E., Hong, S., Al Zahrani, F., Hashem, M. O., Aleisa, F. A., Ahmed, H. M. J., Kandula, T., Macintosh, R., Minoche, A. E., Puttick, C., Gayevskiy, V., Drew, A. P., Cowley, M. J., Dinger, M., Rosenfeld, J. A., Xiao, R., Cho, M. T., Yakubu, S. F., Henderson, L. B., Guillen Sacoto, M. J. & 23 others, Begtrup, A., Hamad, M., Shinawi, M., Andrews, M. V., Jones, M. C., Lindstrom, K., Bristol, R. E., Kayani, S., Snyder, M., Villanueva, M. M., Schteinschnaider, A., Faivre, L., Thauvin, C., Vitobello, A., Roscioli, T., Kirk, E. P., Bye, A., Merzaban, J., Jaremko, Ł., Jaremko, M., Sachdev, R. K., Alkuraya, F. S. & Arold, S. T., Mar 7 2019, In : American Journal of Human Genetics. 104, 3, p. 542-552 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

Diabetes mellitus in a patient with lafora disease: Possible links with pancreatic β-cell dysfunction and insulin resistance

Nicolescu, R. C., Al-Khawaga, S., Minassian, B. A. & Hussain, K., 2019, In : Frontiers in Pediatrics. 6, JAN, 424.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy

Alkhater, R. A., Wang, P., Ruggieri, A., Israelian, L., Walker, S., Scherer, S. W., Smith, M. L. & Minassian, B. A., Apr 1 2019, In : Annals of Clinical and Translational Neurology. 6, 4, p. 807-811 5 p.

Research output: Contribution to journalArticle

Open Access

EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis

Tashkandi, M., Baarma, D., Tricco, A. C., Boelman, C., Alkhater, R. & Minassian, B. A., Feb 1 2019, In : Epileptic Disorders. 21, 1, p. 30-41 12 p.

Research output: Contribution to journalArticle

1 Scopus citations

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model

Woodley, E., Osmon, K. J. L., Thompson, P., Richmond, C., Chen, Z., Gray, S. J. & Walia, J. S., Mar 15 2019, In : Molecular Therapy - Methods and Clinical Development. 12, p. 47-57 11 p.

Research output: Contribution to journalArticle

4 Scopus citations

Impaired Cerebral Vasoreactivity Despite Symptom Resolution in Sports-Related Concussion

Purkayastha, S., Sorond, F. A., Lyng, S., Frantz, J., Murphy, M. N., Hynan, L. S., Sabo, T. & Bell, K. R., Aug 15 2019, In : Journal of neurotrauma. 36, 16, p. 2385-2390 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M. L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A. L., Brunga, L., Ceulemans, B., Coubes, C. & 66 others, Cristancho, A. G., Cunningham, F., Dehouck, M. B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M. L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J. M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 837-849 13 p.

Research output: Contribution to journalArticle

13 Scopus citations

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Care4Rare Canada Consortium, Dec 1 2019, In : Acta Neuropathologica. 138, 6, p. 1013-1031 19 p.

Research output: Contribution to journalArticle

1 Scopus citations

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies

Darras, B. T., Chiriboga, C. A., Iannaccone, S. T., Swoboda, K. J., Montes, J., Mignon, L., Xia, S., Bennett, C. F., Bishop, K. M., Shefner, J. M., Green, A. M., Sun, P., Bhan, I., Gheuens, S., Schneider, E., Farwell, W. & De Vivo, D. C., May 21 2019, In : Neurology. 92, 21, p. e2492-e2506

Research output: Contribution to journalArticle

Open Access
31 Scopus citations
2 Scopus citations
2 Scopus citations

Protocols and Guidelines for Stroke in Children: Point and Counterpoint

Kirton, A. & Dowling, M., Jun 2019, In : Pediatric Neurology. 95, p. 5-8 4 p.

Research output: Contribution to journalArticle

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Steward, C. A., Roovers, J., Suner, M. M., Gonzalez, J. M., Uszczynska-Ratajczak, B., Pervouchine, D., Fitzgerald, S., Viola, M., Stamberger, H., Hamdan, F. F., Ceulemans, B., Leroy, P., Nava, C., Lepine, A., Tapanari, E., Keiller, D., Abbs, S., Sanchis-Juan, A., Grozeva, D., Rogers, A. S. & 16 others, Diekhans, M., Guigó, R., Petryszak, R., Minassian, B. A., Cavalleri, G., Vitsios, D., Petrovski, S., Harrow, J., Flicek, P., Lucy Raymond, F., Lench, N. J., Jonghe, P. D., Mudge, J. M., Weckhuysen, S., Sisodiya, S. M. & Frankish, A., Dec 1 2019, In : npj Genomic Medicine. 4, 1, 31.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Reduced heart rate variability and lower cerebral blood flow associated with poor cognition during recovery following concussion

Purkayastha, S., Williams, B., Murphy, M., Lyng, S., Sabo, T. & Bell, K. R., Sep 2019, In : Autonomic Neuroscience: Basic and Clinical. 220, 102548.

Research output: Contribution to journalArticle

2 Scopus citations

Reduced Resting and Increased Elevation of Heart Rate Variability With Cognitive Task Performance in Concussed Athletes

Huang, M., Frantz, J., Moralez, G., Sabo, T., Davis, P. F., Davis, S. L., Bell, K. R. & Purkayastha, S., Jan 1 2019, In : The Journal of head trauma rehabilitation. 34, 1, p. 45-51 7 p.

Research output: Contribution to journalArticle

2 Scopus citations

Role of Nerve and Muscle Biopsies in Pediatric Patients in the Era of Genetic Testing

Yang, K., Iannaccone, S. T., Burkhalter, L. S., Reisch, J. S., Cai, C. & Schindel, D. T., Nov 1 2019, In : Journal of Surgical Research. 243, p. 27-32 6 p.

Research output: Contribution to journalArticle

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Sullivan, M. A., Nitschke, S., Skwara, E. P., Wang, P., Zhao, X., Pan, X. S., Chown, E. E., Wang, T., Perri, A. M., Lee, J. P. Y., Vilaplana, F., Minassian, B. A. & Nitschke, F., Apr 30 2019, In : Cell Reports. 27, 5, p. 1334-1344.e6

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Deciphering Developmental Disorders (DDD) Study, May 1 2019, In : European Journal of Human Genetics. 27, 5, p. 747-759 13 p.

Research output: Contribution to journalArticle

5 Scopus citations

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

Undiagnosed Diseases Network, Mar 2019, In : Epilepsia. 60, 3, p. 406-418 13 p.

Research output: Contribution to journalArticle

6 Scopus citations

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

the Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC), Oct 1 2019, In : Journal of Pharmacokinetics and Pharmacodynamics. 46, 5, p. 441-455 15 p.

Research output: Contribution to journalArticle

2 Scopus citations

Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy

for the MDA DMD Clinical Research Network, Jun 2019, In : Muscle and Nerve. 59, 6, p. 650-657 8 p.

Research output: Contribution to journalArticle

7 Scopus citations

VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation

de Gusmao, C. M., Stone, S., Waugh, J. L., Yang, E., Lenk, G. M. & Rodan, L. H., Jul 2019, In : Movement Disorders Clinical Practice. 6, 6, p. 494-497 4 p.

Research output: Contribution to journalArticle

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

Hoffman, E. P., Schwartz, B. D., Mengle-Gaw, L. J., Smith, E. C., Castro, D., Mah, J. K., Mcdonald, C. M., Kuntz, N. L., Finkel, R. S., Guglieri, M., Bushby, K., Tulinius, M., Nevo, Y., Ryan, M. M., Webster, R., Smith, A. L., Morgenroth, L. P., Arrieta, A., Shimony, M., Siener, C. & 10 others, Jaros, M., Shale, P., Mccall, J. M., Nagaraju, K., Van Den Anker, J., Conklin, L. S., Cnaan, A., Gordish-Dressman, H., Damsker, J. M. & Clemens, P. R., Sep 24 2019, In : Neurology. 93, 13, p. E1312-E1323

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

White matter changes in cervical dystonia relate to clinical effectiveness of botulinum toxin treatment

Blood, A. J., Kuster, J. K., Waugh, J. L., Levenstein, J. M., Multhaupt-Buell, T. J., Sudarsky, L. R., Breiter, H. C. & Sharma, N., 2019, In : Frontiers in Neurology. 10, APR, 265.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2018

Autoimmune Movement Disorders in Children

Stredny, C. M. & Waugh, J. L., Jan 1 2018, (Accepted/In press) In : Seminars in Pediatric Neurology.

Research output: Contribution to journalArticle