Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA
暂无分享,去创建一个
R. Carrozzo | F. Pierelli | F. Santorelli | C. Casali | N. Vanacore | F. Cricchi | G. Ralli | R. DiFabio | F. Fattori | G. Nola | A. Ingrosso | R. Masi
[1] M. Mancuso,et al. Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature. , 2008, Bioscience reports.
[2] Rickie R. Davis. Acoustic measurement: A tutorial for molecular biologists , 2006, Brain Research.
[3] K. Majamaa,et al. A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA , 2006, Neurology.
[4] H. Hoffman,et al. The Nord-Trøndelag Norway Audiometric Survey 1996-98: unscreened thresholds and prevalence of hearing impairment for adults > 20 years. , 2005, Noise & health.
[5] R. Artuch,et al. Peripheral Neuropathy with Ataxia in Childhood as a Result of the G8363A Mutation in Mitochondrial DNA , 2004, Pediatric Research.
[6] Paul G Shekelle,et al. Screening and management of adult hearing loss in primary care: scientific review. , 2003, JAMA.
[7] K. Majamaa,et al. Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression , 2001, Human Genetics.
[8] E Courchesne,et al. Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation , 2000, Journal of child neurology.
[9] Shoki Takahashi,et al. Profound Hearing Loss Attributable to Cochlear Nerve Disease: Diagnosis With Combination of Otoacoustic Emission and Magnetic Resonance Imaging , 1999, The Laryngoscope.
[10] A. Federico,et al. Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family , 1999, Neurology.
[11] S. Berrettini,et al. [Diagnostic and therapeutic approach to progressive sensorineural hearing loss]. , 1998, Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale.
[12] C. Sue,et al. Cochlear origin of hearing loss in MELAS syndrome , 1998, Annals of neurology.
[13] Yoshihisa Kurachi,et al. An ATP-Dependent Inwardly Rectifying Potassium Channel, KAB-2 (Kir4.1), in Cochlear Stria Vascularis of Inner Ear: Its Specific Subcellular Localization and Correlation with the Formation of Endocochlear Potential , 1997, The Journal of Neuroscience.
[14] S. Dimauro,et al. Mitochondrial DNA Mutations and Pathogenesis , 1997, Journal of bioenergetics and biomembranes.
[15] I. Nonaka,et al. Myoclonus epilepsy associated with ragged‐red fibers: A G‐to‐A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families , 1997, Muscle & nerve.
[16] S. Dimauro,et al. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). , 1996, American journal of human genetics.
[17] Y. B. Shi,et al. New techniques of hearing assessment. , 1994, Otolaryngologic clinics of North America.
[18] J. Dichgans,et al. Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology. , 1990, Journal of neurology, neurosurgery, and psychiatry.
[19] Paul G. Shekelle,et al. Screening and Management of Adult Hearing Loss in Primary Care , 2003 .
[20] A. Rees,et al. The spectrum of hearing loss due to mitochondrial DNA defects. , 2000, Brain : a journal of neurology.
[21] S. Abramovich. Electric Response Audiometry in Clinical Practice , 1991 .