Research Output 1974 2019

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2019
2 Citations (Scopus)

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., Feb 1 2019, In : Stroke. 50, 2, p. 266-273 8 p.

Research output: Contribution to journalArticle

Cerebrovascular Circulation
Hydroxyurea
Sickle Cell Anemia
Hemolysis
Oxygen Consumption

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
Giant Axonal Neuropathy
Crystalline Lens
Intermediate Filaments
Inclusion Bodies
Phenotype

Arterial Ischemic Stroke Secondary to Cardiac Disease in Neonates and Children

International Pediatric Stroke Study Investigators, Jan 1 2019, In : Pediatric Neurology.

Research output: Contribution to journalArticle

Heart Diseases
Stroke
Newborn Infant
Patent Foramen Ovale
Cardiac Catheterization

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

Sickle Cell Anemia
Stroke
Pediatrics
Odds Ratio
Paresis

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

Stroke
Pediatrics
Intracranial Thrombosis
Middle Cerebral Artery Infarction
Decompression
2 Citations (Scopus)

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

Neurology
Medical Students
Students
Neurosciences
Salaries and Fringe Benefits
1 Citation (Scopus)

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. N., 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

Muscle Hypotonia
Progressive Myoclonic Epilepsy
Epilepsy
Co-Repressor Proteins
Poisons
1 Citation (Scopus)

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., Jan 1 2019, In : Frontiers in Pediatrics. 6, JAN, 424.

Research output: Contribution to journalArticle

Open Access
Lafora Disease
Glycogen
Insulin Resistance
Diabetes Mellitus
Mutation

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
Intellectual Disability
Epilepsy
Glycoproteins
Mutation
Missense Mutation

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

Sandhoff Disease
GM2 Gangliosidosis
Hexosaminidase A
Tay-Sachs Disease
Enzymes
1 Citation (Scopus)

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

Sports
Athletes
Cerebrovascular Circulation
Wounds and Injuries
Physiological Phenomena
10 Citations (Scopus)

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

ISIS-396443-CS2/ISIS-396443-CS12 Study Groups, May 21 2019, In : Neurology. 92, 21, p. e2492-e2506

Research output: Contribution to journalArticle

Open Access
Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy
Upper Extremity
Action Potentials
Muscles
Obstructive Sleep Apnea
Autistic Disorder
Polysomnography
Apnea
Demography

Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21

Armstrong, D. & Said, R. R., Jan 1 2019, In : Journal of child neurology.

Research output: Contribution to journalArticle

Infantile Spasms
Down Syndrome
Steroids
Prednisolone
Adrenocorticotropic Hormone

Protocols and Guidelines for Stroke in Children: Point and Counterpoint

Kirton, A. & Dowling, M. M., Jan 1 2019, (Accepted/In press) In : Pediatric Neurology.

Research output: Contribution to journalArticle

Cerebrovascular Disorders
Stroke
Guidelines
1 Citation (Scopus)

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. M. & Bell, K. R., Sep 1 2019, In : Autonomic Neuroscience: Basic and Clinical. 220, 102548.

Research output: Contribution to journalArticle

Cerebrovascular Circulation
Cognition
Autonomic Nervous System
Heart Rate
Athletes
1 Citation (Scopus)

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

Task Performance and Analysis
Athletes
Heart Rate
Prefrontal Cortex
Sports
Vasoconstriction
Transient Ischemic Attack
Atherosclerosis
Magnetic Resonance Angiography
Aphasia

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

Genetic Testing
Pediatrics
Biopsy
Muscles
Electronic Health Records
1 Citation (Scopus)

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
Neurodegenerative diseases
Glycogen
Chain length
Neurodegenerative Diseases
Muscle
1 Citation (Scopus)

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

Fragile X Mental Retardation Protein
Intellectual Disability
Cluster Analysis
Seizures
Muscle Hypotonia
1 Citation (Scopus)

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

Undiagnosed Diseases Network, Jan 1 2019, (Accepted/In press) In : Epilepsia.

Research output: Contribution to journalArticle

Guanosine
Movement Disorders
Muscle Hypotonia
Brain Diseases
Guanosine Triphosphate

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

Duchenne Muscular Dystrophy
Clinical Protocols
Rare Diseases
Uncertainty
Clinical Trials
5 Citations (Scopus)

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

for the MDA DMD Clinical Research Network, Jan 1 2019, In : Muscle and Nerve.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Child Development
Weight Gain
Prednisolone
Muscles

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., Jan 1 2019, In : Movement Disorders Clinical Practice.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Deep Brain Stimulation
Dystonia
Parkinsonian Disorders
Genes
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

Movement Disorders
Dyskinesias
Nervous System Diseases
Immunotherapy
Autoimmune Diseases
1 Citation (Scopus)

Chorea-acanthocytosis

Walker, S., Dad, R., Thiruvahindrapuram, B., Ullah, M. I., Ahmad, A., Hassan, M. J., Scherer, S. W. & Minassian, B. A., Jun 1 2018, In : Neurology: Genetics. 4, 3, e242.

Research output: Contribution to journalArticle

Neuroacanthocytosis
Genome
Phenotype
Nervous System Diseases
Tongue
4 Citations (Scopus)

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Wang, J., Kim, E., Dai, H., Stefans, V., Vogel, H., Al Jasmi, F., Schrier Vergano, S. A., Castro, D., Bernes, S., Bhambhani, V., Long, C., El-Hattab, A. W. & Wong, L. J., Jun 1 2018, In : Molecular Genetics and Metabolism. 124, 2, p. 124-130 7 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Maintenance
Defects
Muscular Diseases
Differential Diagnosis
2 Citations (Scopus)

Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients

Sorelle, J. A., Thodeson, D. M., Arnold, S., Gotway, G. & Park, J. Y., Jan 1 2018, (Accepted/In press) In : JAMA Pediatrics.

Research output: Contribution to journalArticle

Epilepsy
Pediatrics
Health Facilities
Tertiary Healthcare
Outcome Assessment (Health Care)
14 Citations (Scopus)

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 others, Ryan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Töpf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H. M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E. J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Bönnemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., Jun 1 2018, In : Annals of Neurology. 83, 6, p. 1105-1124 20 p.

Research output: Contribution to journalArticle

Protein Isoforms
Mutation
Skeletal Muscle
Connectin
High-Throughput Nucleotide Sequencing

Correction to: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (Genetics in Medicine, (2018), 10.1038/s41436-018-0268-1)

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., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Brain Diseases
Licensure
Medicine
11 Citations (Scopus)

Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy

Bailey, R. M., Armao, D., Nagabhushan Kalburgi, S. & Gray, S. J., Jun 15 2018, In : Molecular Therapy - Methods and Clinical Development. 9, p. 160-171 12 p.

Research output: Contribution to journalArticle

Giant Axonal Neuropathy
Genetic Therapy
Intermediate Filaments
Clinical Trials, Phase I
Viral Genes
66 Citations (Scopus)

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

SMA Care Group, Feb 1 2018, In : Neuromuscular Disorders. 28, 2, p. 103-115 13 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy
Orthopedics
Rehabilitation
Standard of Care
55 Citations (Scopus)

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Finkel, R. S., Mercuri, E., Meyer, O. H., Simonds, A. K., Schroth, M. K., Graham, R. J., Kirschner, J., Iannaccone, S. T., Crawford, T. O., Woods, S., Muntoni, F., Wirth, B., Montes, J., Main, M., Mazzone, E. S., Vitale, M., Snyder, B., Quijano-Roy, S., Bertini, E., Davis, R. H. & 2 others, Qian, Y. & Sejersen, T., Jan 1 2018, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Ethics
Immunization
Lung
Standard of Care

Different ketogenesis strategies lead to disparate seizure outcomes

Dolce, A., Santos, P., Chen, W., Hoke, A. & Hartman, A. L., Jul 1 2018, In : Epilepsy Research. 143, p. 90-97 8 p.

Research output: Contribution to journalArticle

Ketogenic Diet
Seizures
Respiration
Kainic Acid
Diet
5 Citations (Scopus)

Dyslipidemia in Children With Arterial Ischemic Stroke: Prevalence and Risk Factors

Sultan, S., Dowling, M., Kirton, A., DeVeber, G., Linds, A., Elkind, M. S. V., Bernard, T., Dowling, M., Hernandez, M., Rivkin, M., Kopyta, I., Ichord, R., Benedict, S., Mackay, M., Kirton, A., Zafeiriou, D., Troncoso, M., Yager, J., Abraham, L., Lo, W. & 34 others, Gonzalez, V., Saengpattrachai, M., Chan, A., Abdallah, A., Brankovic-Sreckovic, V., Kolk, A., Carpenter, J., Kovacevic, G., Amlie-Lefond, C., Steinlin, M., Paolicchi, J., Carell, M., Bjornson, B., Kosofsky, B., Wong, V., Pergami, P., Friedman, N., Guang, Y., Humphreys, P., Nowak-Göttl, U., Ferriero, D., Xavier, F., Fryer, R., Andrade Alveal, L., Altuna, D., Felling, R., Pavlakis, S., Grabowski, E., Golomb, M., Noetzel, M., Khoury, C., Lerner, N., Blair, A. & Rafay, M., Jan 1 2018, In : Pediatric Neurology. 78, p. 46-54 9 p.

Research output: Contribution to journalArticle

Dyslipidemias
Stroke
Lipids
HDL Cholesterol
Hypertriglyceridemia

Extraneurological sparing in long-lived typical Lafora disease

Goldsmith, D. & Minassian, B. A., Jan 1 2018, In : Epilepsia Open. 3, 2, p. 295-298 4 p.

Research output: Contribution to journalArticle

Open Access
Lafora Disease
Persistent Vegetative State
Myoclonus
Gene Targeting
Antisense Oligonucleotides

Genomic context analysis of de novo STXBP1 mutations identifies evidence of splice site DNA-motif associated hotspots

Uddin, M., Woodbury-Smith, M., Chan, A. J. S., Albanna, A., Minassian, B., Boelman, C. & Scherer, S. W., Apr 1 2018, In : G3: Genes, Genomes, Genetics. 8, 4, p. 1115-1118 4 p.

Research output: Contribution to journalArticle

Nucleotide Motifs
Mutation
Mutagenesis
Genes
Brain Diseases
8 Citations (Scopus)

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Monlong, J., Girard, S. L., Meloche, C., Cadieux-Dion, M., Andrade, D. M., Lafreniere, R. G., Gravel, M., Spiegelman, D., Dionne-Laporte, A., Boelman, C., Hamdan, F. F., Michaud, J. L., Rouleau, G., Minassian, B. A., Bourque, G. & Cossette, P., Apr 1 2018, In : PLoS Genetics. 14, 4, e1007285.

Research output: Contribution to journalArticle

epilepsy
Epilepsy
genome
Genome
gene
3 Citations (Scopus)

Increased insula-putamen connectivity in X-linked dystonia-parkinsonism

Blood, A. J., Waugh, J. L., Münte, T. F., Heldmann, M., Domingo, A., Klein, C., Breiter, H. C., Lee, L. V., Rosales, R. L. & Brüggemann, N., Jan 1 2018, In : NeuroImage: Clinical. 17, p. 835-846 12 p.

Research output: Contribution to journalArticle

Putamen
Corpus Striatum
Dystonia 3, Torsion, X-Linked
Sensorimotor Cortex
2 Citations (Scopus)

Inherited and Acquired Choreas

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

Research output: Contribution to journalArticle

Chorea
Globus Pallidus
Putamen
Basal Ganglia
Brain Injuries
6 Citations (Scopus)

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., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Brain Diseases
Intellectual Disability
Protein Isoforms
Seizures
X Chromosome Inactivation
3 Citations (Scopus)

Lafora Disease: A Review of Molecular Mechanisms and Pathology

Verhalen, B., Arnold, S. & Minassian, B. A., Dec 1 2018, In : Neuropediatrics. 49, 6, p. 357-362 6 p.

Research output: Contribution to journalArticle

Lafora Disease
Molecular Pathology
Glycogen
Progressive Myoclonic Epilepsy
Persistent Vegetative State
6 Citations (Scopus)

Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease

Mitchell, N. L., Russell, K. N., Wellby, M. P., Wicky, H. E., Schoderboeck, L., Barrell, G. K., Melzer, T. R., Gray, S. J., Hughes, S. M. & Palmer, D. N., Jan 1 2018, (Accepted/In press) In : Molecular Therapy.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Genetic Therapy
Sheep
Dependovirus
Brain
4 Citations (Scopus)

Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe's Disease after Global Gene Therapy

Marshall, M. S., Issa, Y., Jakubauskas, B., Stoskute, M., Elackattu, V., Marshall, J. N., Bogue, W., Nguyen, D., Hauck, Z., Rue, E., Karumuthil-Melethil, S., Zaric, V., Bosland, M., van Breemen, R. B., Givogri, M. I., Gray, S. J., Crocker, S. J. & Bongarzone, E. R., Jan 1 2018, (Accepted/In press) In : Molecular Therapy.

Research output: Contribution to journalArticle

Globoid Cell Leukodystrophy
Galactosylceramidase
Genetic Therapy
Dependovirus
Nervous System
5 Citations (Scopus)

Mortality after pediatric arterial ischemic stroke

International Pediatric Stroke Study Investigators, May 1 2018, In : Pediatrics. 141, 5, e20174146.

Research output: Contribution to journalArticle

Stroke
Pediatrics
Hospital Mortality
Mortality
Odds Ratio
5 Citations (Scopus)

MYORG is associated with recessive primary familial brain calcification

Arkadir, D., Lossos, A., Rahat, D., Abu Snineh, M., Schueler-Furman, O., Nitschke, S., Minassian, B. A., Sadaka, Y., Lerer, I., Tabach, Y. & Meiner, V., Jan 1 2018, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Mutation
Brain
Genes
Proteins
Exome

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project

Lawlor, M. W., Iannaccone, S. T., Mathews, K., Muntoni, F., Alai-Hansen, S., Odenkirchen, J. C. & Feldman, R. S., Jan 1 2018, In : Journal of Neuromuscular Diseases. 5, 1, p. 75-84 10 p.

Research output: Contribution to journalArticle

National Institute of Neurological Disorders and Stroke
Muscular Dystrophies
Research
Neuromuscular Diseases
Common Data Elements
161 Citations (Scopus)

Nusinersen versus sham control in later-onset spinal muscular atrophy

Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., Shieh, P. B., Tulinius, M., Mazzone, E. S., Montes, J., Bishop, K. M., Yang, Q., Foster, R., Gheuens, S., Bennett, C. F., Farwell, W. & 3 others, Schneider, E., De Vivo, D. C. & Finkel, R. S., Feb 15 2018, In : New England Journal of Medicine. 378, 7, p. 625-635 11 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Control Groups
Least-Squares Analysis
RNA Splicing
Motor Skills

Ocular phenotype and electroretinogram abnormalities in Lafora disease: A “window to the brain”

Vincent, A., Macrì, A., Tumber, A., Koukas, N., Ahonen, S., Striano, P. & Minassian, B. A., Jan 1 2018, In : Neurology. 91, 3, p. 137-139 3 p.

Research output: Contribution to journalArticle

Lafora Disease
Phenotype
Brain