Huy M. Huynh

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Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS) characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs. Individuals affected with ALS4 usually have an onset of symptoms at age <25 years, a slow rate of progression, and a normal life span. The(More)
We carried out an analysis of the expression of Prox1, a homeo-domain transcription factor, during mouse inner ear development with particular emphasis on the auditory system. Prox1 is expressed in the otocyst beginning at embryonic day (E)11, in the developing vestibular sensory patches. Expression is down regulated in maturing (myosin VIIA immunoreactive)(More)
The three species of bears inNorthAmerica, polarbears (UrsusmaritimusPhipps, 1774), brownbears (Ursus arctos L., 1758), and black bears (Ursus americanus Pallas, 1780), have differentiated morphologies and nuclear and mitochondrial genomes. An exception is a paraphyletic mitochondrial DNA relationship and some nuclear gene lineages common to polar bears and(More)
Pyridoxine-dependent seizure (PDS) is a rare autosomal recessive intractable seizure disorder only controlled by a daily supplementation of pharmacological doses of pyridoxine (Vitamin B6). Although glutamate decarboxylase utilizes pyridoxal phosphate as a cofactor during conversion of the excitatory amino acid, glutamate, to the inhibitory(More)
Charcot-Marie-Tooth neuropathy type 1C (CMT1C) is an autosomal dominant demyelinating peripheral neuropathy caused by missense mutations in the small integral membrane protein of lysosome/late endosome (SIMPLE) gene. To investigate the prevalence of SIMPLE mutations, we screened a cohort of 152 probands with various types of demyelinating or axonal and pure(More)
Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome, involving dysgenesis of the cerebellar vermis with accompanying brainstem malformations (comprising the molar tooth sign). JS is characterized by hypotonia, developmental delay, intermittent hyperpnea and apnea, and abnormal eye movements. A single locus for JS was previously(More)
Ambiguity in meanings of words or phrases in a document is considered one of the most primary barriers in natural language processing. In this work, we address the task of identifying and linking mentions of entities into correct referents described in a given knowledge base. To deal with it, we propose a supervised learning method for ranking candidate(More)
Wikification is the task to link textual mentions in a document to articles in Wikipedia. It comprises three main steps, namely, mention recognition, candidate generation, and entity linking. For candidate generation, existing methods use hyperlinks in Wikipedia or match a mention of discourse to Wikipedia article titles. They may miss the correct target(More)
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