User profiles for Michael Hildebrand

Michael Hildebrand

- Verified email at unimelb.edu.au - Cited by 8557

Michael E Hildebrand

- Verified email at carleton.ca - Cited by 2098

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

…, SF Berkovic, J Shendure, MS Hildebrand… - Nature …, 2013 - nature.com
Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies
of unknown etiology with a characteristic electroencephalogram (EEG) pattern and …

Calcium-permeable ion channels in pain signaling

E Bourinet, C Altier, ME Hildebrand… - Physiological …, 2014 - journals.physiology.org
The detection and processing of painful stimuli in afferent sensory neurons is critically dependent
on a wide range of different types of voltage- and ligand-gated ion channels, including …

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

…, S Markkinen, SE Heron, MS Hildebrand… - Nature …, 2015 - nature.com
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting
with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 …

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

…, AP DeLuca, MS Hildebrand… - Proceedings of the …, 2010 - National Acad Sciences
The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic
diagnosis expensive and time consuming using available methods. To assess the feasibility of …

[PDF][PDF] A cellular taxonomy of the adult human spinal cord

…, MA Nalls, YA Qi, D Maric, ME Ward, ME Hildebrand… - Neuron, 2023 - cell.com
The mammalian spinal cord functions as a community of cell types for sensory processing,
autonomic control, and movement. While animal models have advanced our understanding of …

[HTML][HTML] Hereditary hearing loss and deafness overview

AE Shearer, MS Hildebrand, RJH Smith - 2017 - europepmc.org
Hildebrand MS 2 , … A Eliot Shearer, MD, PhD, Michael S Hildebrand, PhD, Amanda M
Schaefer, MS, LGC, and Richard JH Smith, MD. … Michael S Hildebrand, PhD (2010-present) …

[PDF][PDF] Human male infertility caused by mutations in the CATSPER1 channel protein

MR Avenarius, MS Hildebrand, Y Zhang… - The American Journal of …, 2009 - cell.com
Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty
affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from …

[HTML][HTML] Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

WJ Kimberling, MS Hildebrand, AE Shearer… - Genetics in …, 2010 - nature.com
Purpose: Usher syndrome is a major cause of genetic deafness and blindness. The hearing
loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in …

[PDF][PDF] Deafness and hereditary hearing loss overview

RJH Smith, AE Shearer, MS Hildebrand… - …, 1993 - medschool.lsuhsc.edu
Disease characteristics. Hereditary hearing loss and deafness may be conductive, sensorineural,
or a combination of both; syndromic (associated with malformations of the external ear …

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

…, B Leal, EVS Hessel, K Hallmann, MS Hildebrand… - Brain, 2013 - academic.oup.com
Epilepsy comprises several syndromes, amongst the most common being mesial temporal
lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with …