• 4592 Citations
  • 35 h-Index
1985 …2019
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Fingerprint Dive into the research topics where Mauricio R Delgado-Ayala is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Holoprosencephaly Medicine & Life Sciences
Cerebral Palsy Medicine & Life Sciences
Carbamazepine Medicine & Life Sciences
Tuberous Sclerosis Medicine & Life Sciences
Type A Botulinum Toxins Medicine & Life Sciences
Mutation Medicine & Life Sciences
Valproic Acid Medicine & Life Sciences
Therapeutics Medicine & Life Sciences

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Research Output 1985 2019

  • 4592 Citations
  • 35 h-Index
  • 104 Article
  • 5 Conference contribution
  • 1 Editorial
  • 1 Short survey

2-Pyrrolidinone and succinimide as clinical screening biomarkers for gaba-transaminase deficiency: Anti-seizure medications impact accurate diagnosis

Kennedy, A. D., Pappan, K. L., Donti, T., Delgado, M. R., Shinawi, M., Pearson, T. S., Lalani, S. R., Craigen, W. E., Sutton, V. R., Evans, A. M., Sun, Q., Emrick, L. T. & Elsea, S. H., Jan 1 2019, In : Frontiers in Neuroscience. 13, MAY, 394.

Research output: Contribution to journalArticle

Open Access
Post-Traumatic Epilepsy
Metabolomics
Biomarkers
Cerebrospinal Fluid
gamma-Aminobutyric Acid

Cohesin complex-associated holoprosencephaly

Kruszka, P., Berger, S. I., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R., Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., Zonneveld-Huijssoon, E., Stephan, M. J., Hogue, J., Hu, P., Tanima-Nagai, M., Everson, J. L., Prasad, C., Cereda, A. & 15 others, Iascone, M., Schreiber, A., Zurcher, V., Corsten-Janssen, N., Escobar, L., Clegg, N. J., Delgado, M. R., Hajirnis, O., Balasubramanian, M., Kayserili, H., Deardorff, M., Poot, R. A., Wendt, K. S., Lipinski, R. J. & Muenke, M., Sep 1 2019, In : Brain : a journal of neurology. 142, 9, p. 2631-2643 13 p.

Research output: Contribution to journalArticle

Open Access
Holoprosencephaly
Prosencephalon
X-Linked Genes
Neurulation
Inheritance Patterns

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Blackburn, A. T. M., Bekheirnia, N., Uma, V. C., Corkins, M. E., Xu, Y., Rosenfeld, J. A., Bainbridge, M. N., Yang, Y., Liu, P., Madan-Khetarpal, S., Delgado, M. R., Hudgins, L., Krantz, I., Rodriguez-Buritica, D., Wheeler, P. G., Gazali, L. A., Mohamed Saeed Mohamed Al Shamsi, A., Gomez-Ospina, N., Chao, H. T., Mirzaa, G. M. & 9 others, Scheuerle, A. E., Kukolich, M. K., Scaglia, F., Eng, C., Willsey, H. R., Braun, M. C., Lamb, D. J., Miller, R. K. & Bekheirnia, M. R., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Intellectual Disability
Nephrons
Xenopus
RNA
Exome

Efficacy of Repeat AbobotulinumtoxinA (Dysport®) Injections in Improving Gait in Children with Spastic Cerebral Palsy

Dursun, N., Bonikowski, M., Dabrowski, E., Matthews, D., Gormley, M., Tilton, A., Carranza, J., Grandoulier, A. S., Picaut, P. & Delgado, M. R., Jan 1 2019, (Accepted/In press) In : Developmental Neurorehabilitation.

Research output: Contribution to journalArticle

Open Access
Cerebral Palsy
Gait
Injections
Placebos
Leg
1 Citation (Scopus)

AbobotulinumtoxinA Efficacy and Safety in Children With Equinus Foot Previously Treated With Botulinum Toxin

Dabrowski, E., Bonikowski, M., Gormley, M., Volteau, M., Picaut, P. & Delgado, M. R., Jan 1 2018, (Accepted/In press) In : Pediatric Neurology.

Research output: Contribution to journalArticle

Botulinum Toxins
Foot
Safety
Leg
Placebos