Research Output 1974 2019

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Review article
2019

Genomic testing in pediatric epilepsy

Thodeson, D. M. & Park, J. Y., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 4

Research output: Contribution to journalReview article

Open Access
Pediatrics
Epilepsy
Testing
Standard of Care
Genes
2018
5 Citations (Scopus)

Lafora disease — from pathogenesis to treatment strategies

Nitschke, F., Ahonen, S. J., Nitschke, S., Mitra, S. & Minassian, B. A., Oct 1 2018, In : Nature Reviews Neurology. 14, 10, p. 606-617 12 p.

Research output: Contribution to journalReview article

Lafora Disease
Glycogen
Progressive Myoclonic Epilepsy
Glucose
Genetic Models
11 Citations (Scopus)

Lafora disease offers a unique window into neuronal glycogen metabolism

Gentry, M. S., Guinovart, J. J., Minassian, B. A., Roach, P. J. & Serratosa, J. M., Jan 1 2018, In : Journal of Biological Chemistry. 293, 19, p. 7117-7125 9 p.

Research output: Contribution to journalReview article

Lafora Disease
Glycogen
Metabolism
Glycogen Phosphorylase
Glycogen Synthase
9 Citations (Scopus)

Recent progress and considerations for AAV gene therapies targeting the central nervous system

Lykken, E. A., Shyng, C., Edwards, R. J., Rozenberg, A. & Gray, S. J., May 18 2018, In : Journal of Neurodevelopmental Disorders. 10, 1, 16.

Research output: Contribution to journalReview article

Dependovirus
Gene Targeting
Genetic Therapy
Central Nervous System
Therapeutics
2017
5 Citations (Scopus)

Deep brain stimulation for monogenic dystonia

Aravamuthan, B. R., Waugh, J. L. & Stone, S. S., Dec 1 2017, In : Current Opinion in Pediatrics. 29, 6, p. 691-696 6 p.

Research output: Contribution to journalReview article

Deep Brain Stimulation
Dystonia
Phenotype
15 Citations (Scopus)

Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force

Andrade, D. M., Bassett, A. S., Bercovici, E., Borlot, F., Bui, E., Camfield, P., Clozza, G. Q., Cohen, E., Gofine, T., Graves, L., Greenaway, J., Guttman, B., Guttman-Slater, M., Hassan, A., Henze, M., Kaufman, M., Lawless, B., Lee, H., Lindzon, L., Lomax, L. B. & 16 others, McAndrews, M. P., Menna-Dack, D., Minassian, B. A., Mulligan, J., Nabbout, R., Nejm, T., Secco, M., Sellers, L., Shapiro, M., Slegr, M., Smith, R., Szatmari, P., Tao, L., Vogt, A., Whiting, S. & Carter Snead, O., Sep 1 2017, In : Epilepsia. 58, 9, p. 1502-1517 16 p.

Research output: Contribution to journalReview article

Transition to Adult Care
Ontario
Advisory Committees
Epilepsy
Pediatrics
11 Citations (Scopus)

Genome annotation for clinical genomic diagnostics: Strengths and weaknesses

Steward, C. A., Parker, A. P. J., Minassian, B. A., Sisodiya, S. M., Frankish, A. & Harrow, J., May 30 2017, In : Genome Medicine. 9, 1, 49.

Research output: Contribution to journalReview article

Genome
Exome
Technology
Human Genome Project
Inborn Genetic Diseases
2 Citations (Scopus)

Gradually progressive spastic ataxia in a young man steadily unsteady

Dubey, D., Khemani, P., Remster, E. & Elliott, J. L., Feb 1 2017, In : JAMA Neurology. 74, 2, p. 238-241 4 p.

Research output: Contribution to journalReview article

Neuroimaging
Spinocerebellar Degenerations
Neurologic Examination
Gait
Atrophy
12 Citations (Scopus)

Pathogenesis of lafora disease: Transition of soluble glycogen to insoluble polyglucosan

Sullivan, M. A., Nitschke, S., Steup, M., Minassian, B. A. & Nitschke, F., Aug 11 2017, In : International Journal of Molecular Sciences. 18, 8, 1743.

Research output: Contribution to journalReview article

Lafora Disease
glycogens
pathogenesis
Glycogen
impairment
5 Citations (Scopus)

Update on pharmacological treatment of progressive myoclonus epilepsies

Ferlazzo, E., Trenite, D. K. N., de Haan, G. J., Nitschke, F., Ahonen, S., Gasparini, S. & Minassian, B. A., Jan 1 2017, In : Current Pharmaceutical Design. 23, 37, p. 5662-5666 5 p.

Research output: Contribution to journalReview article

Progressive Myoclonic Epilepsy
Myoclonus
Pharmacology
Seizures
zonisamide
2016
3 Citations (Scopus)

Immunological considerations for treating globoid cell leukodystrophy

Karumuthil-Melethil, S. & Gray, S. J., Nov 1 2016, In : Journal of Neuroscience Research. 94, 11, p. 1349-1358 10 p.

Research output: Contribution to journalReview article

Globoid Cell Leukodystrophy
Enzyme Replacement Therapy
Demyelinating Diseases
Adaptive Immunity
Innate Immunity
8 Citations (Scopus)

Insights into the Pathogenesis and Treatment of Krabbe Disease

Bongarzone, E. R. O., Escolar, M. L. U., Gray, S. J. A., Kafri, T., Vite, C. H. E. & Sands, M. S. T., Jun 1 2016, In : Pediatric endocrinology reviews : PER. 13, p. 689-696 8 p.

Research output: Contribution to journalReview article

Globoid Cell Leukodystrophy
Psychosine
Galactosylceramidase
Therapeutics
Galactosylceramides
28 Citations (Scopus)

Lafora disease

Turnbull, J., Tiberia, E., Striano, P., Genton, P., Carpenter, S., Ackerley, C. A. & Minassian, B. A., Jan 1 2016, In : Epileptic Disorders. 18, p. S38-S62

Research output: Contribution to journalReview article

Lafora Disease
Glycogen
Progressive Myoclonic Epilepsy
Founder Effect
Phenotype
10 Citations (Scopus)

Localization of Basal Ganglia and Thalamic Damage in Dyskinetic Cerebral Palsy

Aravamuthan, B. R. & Waugh, J. L., Jan 1 2016, In : Pediatric Neurology. 54, p. 11-21 11 p.

Research output: Contribution to journalReview article

Globus Pallidus
Cerebral Palsy
Basal Ganglia
Putamen
Corpus Striatum
31 Citations (Scopus)

Neuronal ceroid lipofuscinoses

Nita, D. A., Mole, S. E. & Minassian, B. A., Jan 1 2016, In : Epileptic Disorders. 18, p. S73-S88

Research output: Contribution to journalReview article

Neuronal Ceroid-Lipofuscinoses
Myoclonic Epilepsy
Atrophy
Cognitive Dysfunction
lipopigments
3 Citations (Scopus)

Post-modern therapeutic approaches for progressive myoclonus epilepsy

Minassian, B. A., Jan 1 2016, In : Epileptic Disorders. 18, p. S154-S158

Research output: Contribution to journalReview article

Progressive Myoclonic Epilepsy
Nervous System Diseases
Brain
Epilepsy
Technology
55 Citations (Scopus)

Rett Syndrome: Crossing the Threshold to Clinical Translation

Katz, D. M., Bird, A., Coenraads, M., Gray, S. J., Menon, D. U., Philpot, B. D. & Tarquinio, D. C., Feb 1 2016, In : Trends in Neurosciences. 39, 2, p. 100-113 14 p.

Research output: Contribution to journalReview article

Rett Syndrome
Neurobiology
Drug Industry
Biotechnology
Natural History
7 Citations (Scopus)

The history of progressive myoclonus epilepsies

Genton, P., Striano, P. & Minassian, B. A., Jan 1 2016, In : Epileptic Disorders. 18, p. S3-S10

Research output: Contribution to journalReview article

Progressive Myoclonic Epilepsy
History
Research Personnel
Genetic Research
Genes
2015
18 Citations (Scopus)

A brief review of recent Charcot-Marie-Tooth research and priorities

Ekins, S., Litterman, N. K., Arnold, R. J. G., Burgess, R. W., Freundlich, J. S., Gray, S. J., Higgins, J. J., Langley, B., Willis, D. E., Notterpek, L., Pleasure, D., Sereda, M. W. & Moore, A., Feb 26 2015, In : F1000Research. 4

Research output: Contribution to journalReview article

Tooth
Research
Charcot-Marie-Tooth Disease
Stem Cell Research
Gene therapy
8 Citations (Scopus)

X-linked myopathy with excessive autophagy: a failure of self-eating

Dowling, J. J., Moore, S. A., Kalimo, H. & Minassian, B. A., Feb 18 2015, In : Acta Neuropathologica. 129, 3, p. 383-390 8 p.

Research output: Contribution to journalReview article

Muscular Diseases
Vacuoles
Eating
Glycogen Storage Disease Type IIb
Complement C5b
2014
6 Citations (Scopus)

Education in medical billing benefits both neurology trainees and academic departments

Waugh, J. L., Jan 1 2014, In : Neurology. 83, 20, p. 1856-1861 6 p.

Research output: Contribution to journalReview article

Neurology
Medical Education
Documentation
Internship and Residency
Curriculum
7 Citations (Scopus)

Progressive multifocal leukoencephalopathy in pediatric patients: Case report and literature review

Schwenk, H., Ramirez-Avila, L., Sheu, S. H., Wuthrich, C., Waugh, J., Was, A., Degirolami, U., Burchett, S., Koralnik, I. J. & Ahmed, A., Apr 1 2014, In : Pediatric Infectious Disease Journal. 33, 4

Research output: Contribution to journalReview article

Progressive Multifocal Leukoencephalopathy
Immune Reconstitution Inflammatory Syndrome
JC Virus
Pediatrics
Dysarthria
31 Citations (Scopus)

Transition from glycogen to starch metabolism in archaeplastida

Cenci, U., Nitschke, F., Steup, M., Minassian, B. A., Colleoni, C. & Ball, S. G., Jan 1 2014, In : Trends in Plant Science. 19, 1, p. 18-28 11 p.

Research output: Contribution to journalReview article

glycogen
starch
metabolism
dephosphorylation
pathogens
2013
3 Citations (Scopus)

Clinical Neurogenetics: Dystonia From Phenotype to Genotype

Waugh, J. L. & Sharma, N., Nov 1 2013, In : Neurologic Clinics. 31, 4, p. 969-986 18 p.

Research output: Contribution to journalReview article

Dystonia
Genotype
Phenotype
Movement Disorders
Information Management
20 Citations (Scopus)

Gene therapy and neurodevelopmental disorders

Gray, S. J., May 1 2013, In : Neuropharmacology. 68, p. 136-142 7 p.

Research output: Contribution to journalReview article

Genetic Therapy
Dependovirus
Central Nervous System
Nervous System Diseases
Lysosomal Storage Diseases
11 Citations (Scopus)

Laforin prevents stress-induced polyglucosan body formation and lafora disease progression in neurons

Liu, Y., Wang, Y., Ma, K., Wang, P., Baba, O., Zhang, H., Parent, J. M., Zheng, P., Liu, Y. & Minassian, B. A., Aug 1 2013, In : Molecular Neurobiology. 48, 1, p. 49-61 13 p.

Research output: Contribution to journalReview article

Lafora Disease
Disease Progression
Glycogen
Neurons
Glycogen Phosphorylase
113 Citations (Scopus)

Progress in gene therapy for neurological disorders

Simonato, M., Bennett, J., Boulis, N. M., Castro, M. G., Fink, D. J., Goins, W. F., Gray, S. J., Lowenstein, P. R., Vandenberghe, L. H., Wilson, T. J., Wolfe, J. H. & Glorioso, J. C., May 1 2013, In : Nature Reviews Neurology. 9, 5, p. 277-291 15 p.

Research output: Contribution to journalReview article

Nervous System Diseases
Genetic Therapy
Inborn Genetic Diseases
Sensory Receptor Cells
Epigenomics
2012
28 Citations (Scopus)

Dravet syndrome: Seizure control and gait in adults with different SCN1A mutations

Rilstone, J. J., Coelho, F. M., Minassian, B. A. & Andrade, D. M., Aug 1 2012, In : Epilepsia. 53, 8, p. 1421-1428 8 p.

Research output: Contribution to journalReview article

Myoclonic Epilepsy
Gait
Seizures
Mutation
Status Epilepticus
124 Citations (Scopus)

Viral vectors for gene delivery to the central nervous system

Lentz, T. B., Gray, S. J. & Samulski, R. J., Nov 1 2012, In : Neurobiology of Disease. 48, 2, p. 179-188 10 p.

Research output: Contribution to journalReview article

Viral Genes
Central Nervous System
Genetic Therapy
Genes
Viruses
2010
35 Citations (Scopus)

Viral vectors and delivery strategies for CNS gene therapy

Gray, S. J., Woodard, K. T. & Samulski, R. J., Oct 1 2010, In : Therapeutic Delivery. 1, 4, p. 517-534 18 p.

Research output: Contribution to journalReview article

Genetic Therapy
Dependovirus
Tropism
Capsid
Transgenes
2009

Drug treatment for spinal muscular atrophy types II and III.

Bosboom, W. M. J., Vrancken, A. F. J. E., van den Berg, L. H., Wokke, J. H. J. & Iannaccone, S. T., Jan 1 2009, In : Cochrane database of systematic reviews (Online). 1

Research output: Contribution to journalReview article

Spinal Muscular Atrophies of Childhood
Pharmaceutical Preparations
Therapeutics
Spinal Muscular Atrophy
Outcome Assessment (Health Care)
6 Citations (Scopus)

Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus

Andrade, D. M., Hamani, C. & Minassian, B. A., Jul 1 2009, In : Expert Opinion on Pharmacotherapy. 10, 10, p. 1549-1560 12 p.

Research output: Contribution to journalReview article

Myoclonic Epilepsy
Myoclonus
Therapeutics
PubMed
Anticonvulsants
2008
44 Citations (Scopus)

Optimizing gene delivery vectors for the treatment of heart disease

Gray, S. J. & Samulski, R. J., Jul 1 2008, In : Expert Opinion on Biological Therapy. 8, 7, p. 911-922 12 p.

Research output: Contribution to journalReview article

Gene therapy
Genetic Therapy
Heart Diseases
Genes
Dependovirus
2007
30 Citations (Scopus)

Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

Lohi, H., Turnbull, J., Zhao, X. C., Pullenayegum, S., Ianzano, L., Yahyaoui, M., Mikati, M. A., Franceschetti, S., Zara, F. & Minassian, B. A., Mar 1 2007, In : Neurology. 68, 13, p. 996-1001 6 p.

Research output: Contribution to journalReview article

Lafora Disease
Genetic Association Studies
Mutation
Biopsy
Polymerase Chain Reaction
12 Citations (Scopus)

Genetics of epilepsies

Andrade, D. M. & Minassian, B. A., Jun 1 2007, In : Expert Review of Neurotherapeutics. 7, 6, p. 727-734 8 p.

Research output: Contribution to journalReview article

Epilepsy
Genes
Ligand-Gated Ion Channels
Generalized Epilepsy
Partial Epilepsy
25 Citations (Scopus)

Lafora disease, seizures and sugars

Andrade, D. M., Turnbull, J. & Minassian, B. A., Jul 1 2007, In : Acta Myologica. 26, 1, p. 83-86 4 p.

Research output: Contribution to journalReview article

Lafora Disease
Seizures
Progressive Myoclonic Epilepsy
Genes
2006
15 Citations (Scopus)

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.

Lohi, H., Chan, E. M., Scherer, S. W. & Minassian, B. A., Jan 1 2006, In : Advances in neurology. 97, p. 399-415 17 p.

Research output: Contribution to journalReview article

Unverricht-Lundborg Syndrome
Lafora Disease
Progressive Myoclonic Epilepsy
Neuronal Ceroid-Lipofuscinoses
Animal Disease Models
2 Citations (Scopus)

What intractability information is there in the type of generalized seizure?

Mohamed, I. S. & Minassian, B. A., Jan 1 2006, In : Advances in neurology. 97, p. 141-147 7 p.

Research output: Contribution to journalReview article

Lafora Disease
Myoclonic Epilepsy
Infantile Spasms
Absence Epilepsy
Generalized Epilepsy
2005
34 Citations (Scopus)

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

Chan, E. M., Andrade, D. M., Franceschetti, S. & Minassian, B., Jan 1 2005, In : Advances in neurology. 95, p. 47-57 11 p.

Research output: Contribution to journalReview article

Unverricht-Lundborg Syndrome
Lafora Disease
Progressive Myoclonic Epilepsy
Cystatins
Animal Disease Models
72 Citations (Scopus)

Sacred disease secrets revealed: The genetics of human epilepsy

Turnbull, J., Lohi, H., Kearney, J. A., Rouleau, G. A., Delgado-Escueta, A. V., Meisler, M. H., Cossette, P. & Minassian, B. A., Sep 1 2005, In : Human Molecular Genetics. 14, 17, p. 2491-2500 10 p.

Research output: Contribution to journalReview article

Medical Genetics
Epilepsy
Juvenile Myoclonic Epilepsy
Seizures
Genes
2002
61 Citations (Scopus)

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

Minassian, B. A., Jan 1 2002, In : Advances in neurology. 89, p. 199-210 12 p.

Research output: Contribution to journalReview article

Lafora Disease
Progressive Myoclonic Epilepsy
Protein Tyrosine Phosphatases
Glucans
Disease Progression
2001
122 Citations (Scopus)

Lafora's disease: Towards a clinical, pathologic, and molecular synthesis

Minassian, B. A., Aug 20 2001, In : Pediatric Neurology. 25, 1, p. 21-29 9 p.

Research output: Contribution to journalReview article

Lafora Disease
Progressive Myoclonic Epilepsy
Seizures
Nervous System
Mutation
1999
30 Citations (Scopus)

Parental imprinting and Angelman syndrome.

Lalande, M., Minassian, B. A., DeLorey, T. M. & Olsen, R. W., Jan 1 1999, In : Advances in neurology. 79, p. 421-429 9 p.

Research output: Contribution to journalReview article

Angelman Syndrome
Genomic Imprinting
Genes
Chromosomes, Human, Pair 15
DNA Replication Timing
1998
5 Citations (Scopus)

Management of status epilepticus in children.

Sabo-Graham, T. & Seay, A. R., Sep 1 1998, In : Pediatrics in review / American Academy of Pediatrics. 19, 9

Research output: Contribution to journalReview article

Status Epilepticus
Seizures
Lorazepam
Diazepam
Phenobarbital