A5074420569- Genetic Neurodegenerative Diseases
- Voice and Speech Disorders
- Speech Recognition and Synthesis
- Mitochondrial Function and Pathology
- Prostate Cancer Diagnosis and Treatment
- Cleft Lip and Palate Research
- Bladder and Urothelial Cancer Treatments
- Glycogen Storage Diseases and Myoclonus
- Neurological diseases and metabolism
- Vestibular and auditory disorders
- Autoimmune Neurological Disorders and Treatments
- Neurological Disorders and Treatments
- Dysphagia Assessment and Management
- Genomics and Rare Diseases
- Prostate Cancer Treatment and Research
- Migraine and Headache Studies
- Head and Neck Cancer Studies
- Biochemical and Molecular Research
- DNA Repair Mechanisms
- Urologic and reproductive health conditions
University of California, Los Angeles
2018-2023
Neurology, Inc
2020
Institute of Neurological Sciences
2018
Vanderbilt University Medical Center
2018
National Research Council
2018
National Academies of Sciences, Engineering, and Medicine
2018
Neurobehavioral Systems
2018
University Memory and Aging Center
2018
University of California, San Francisco
2018
Società Italiana di Medicina Generale
2018
Genetic ataxias are associated with mutations in hundreds of genes high phenotypic overlap complicating the clinical diagnosis. Whole-exome sequencing (WES) has increased overall diagnostic rate considerably. However, upper limit this method remains ill-defined, hindering efforts to address remaining gap. To further assess role rare coding variation ataxic disorders, we reanalyzed our previously published exome cohort 76 predominantly adult and sporadic-onset patients, expanded total number...
Abstract Background Partial gland ablation (PGA) is a new option for treatment of prostate cancer (PCa). Cryotherapy, an early method PGA, has had favorable evaluations, but few studies have employed strict protocol using biopsy endpoints in men with clinically significant (csPCa). Methods 143 unilateral csPCa were enrolled prospective, observational trial outpatient PGA‐cryotherapy. Treatment was 2‐cycle freeze the affected part. Participants evaluated MRI‐guided (MRGB) at baseline and 6...
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders that involve the degeneration cerebellum and brainstem.1 These genetic diseases characterized by autosomal dominant inheritance with approximately 44 known subtypes. Recently, mutations in CACNA1G gene, encoding voltage-gated calcium channel CaV3.1, have been linked to SCA42 French2 Japanese3,4 families. prevalence elsewhere world has yet be documented. Through combination whole-exome sequencing (WES)...
SYNOPSIS A case of transient global amnesia in a nine year old child with history recurrent episodes vertigoand family migraine headache is described. The possibility that acute confusional state inchildren, presenting as may represent variant basilar discussed.
Pigs have become important animal models in voice research. Several objective parameters exist to characterize the pig voice, but it is not clear which of them are sensitive impaired quality after laryngeal injury or surgery. In order conduct meaningful research pigs, critical standard functional outcome measures that can distinguish between normal and voices. For this reason, we investigated 17 acoustic before early surgery three Yucatan mini pigs. Four showed consistent changes pre-...
Patients with advanced laryngeal cancer are typically presented divergent treatment options, namely chemoradiation versus total laryngectomy. This study aims to understand general perspectives of the factors involved in this decision-making process.
Thursday, April 30April 14, 2020Free AccessA Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders (2006)Kathie Ngo, Jessica Rexach, Hane Lee, Lauren Petty, Susan Perlman, Juliana Valera, Joshua Deignan, … Show All , Yuanming Mao, Mamdouh Aker, Jennifer Posey, Shalini Jhangiani, Zeynep Coban-Akdemir, Eric Boerwinkle, Donna Muzny, Alexandra Nelson, Sharon Hassin-Baer, Gemma Poke, Katherine Neas, Michael Geschwind, Wayne Grody, Richard Gibbs, Daniel...
You have accessJournal of UrologyCME1 Apr 2023MP73-01 DOES MRI OR PSA PREDICT BIOPSY OUTCOME AFTER FOCAL CRYOTHERAPY FOR PROSTATE CANCER? Wayne Brisbane, Mamdouh Aker, Lorna Kwan, Samantha Gonzalez, Alan Priester, Adam Kinnaird, Merdie Delfin, Ely Felker, Anthony Sisk, and David Kupperman BrisbaneWayne Brisbane More articles by this author , AkerMamdouh Aker KwanLorna Kwan GonzalezSamantha Gonzalez PriesterAlan Priester KinnairdAdam Kinnaird DelfinMerdie Delfin FelkerEly Felker SiskAnthony...