High-resolution computed tomography: determination of the cause of pediatric sensorineural hearing loss

Autor: Pappas Dg, Royal S, McKenzie Ra, Simpson Lc

Publikováno v: The Laryngoscope. 100(6)

High-resolution computed tomograms (HRCT) reveal strikingly little variation in the dimensions of inner ear structures among people with normal hearing. However, a subgroup of people exist who have a sensorineural hearing loss (SNHL) and morphologica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22ef4c0b1ccaa4376e2d462b7c10f512
https://pubmed.ncbi.nlm.nih.gov/2348731

Cavernous hemangiomas of the internal auditory canal

Autor: Pappas Dg, Simpson Lc, Sofferman Ra, Schneiderman Ts, Chandra-Sekar B, Brackmann De

Publikováno v: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 101(1)

Cavernous hemangiomas are vascular malformations that are seldom found in the central nervous system. Four cavernous hemangiomas of the internal auditory canal and one of the cerebellopontine angle have been reported previously. We present a series o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5a0daaf53c4ac6c433367ca4a855d50
https://pubmed.ncbi.nlm.nih.gov/2502760

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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Autor: Beijer D; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany., Dohrn MF; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA.; Department of Neurology, Medical Faculty RWTH Aachen University, 52074 Aachen, Germany., Rebelo A; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Danzi MC; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Grosz BR; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, NSW 2139, Sydney, Australia., Ellis M; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, NSW 2139, Sydney, Australia., Kumar KR; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, NSW 2139, Sydney, Australia., Vucic S; Brain and Nerve Research Centre, Concord Hospital, Sydney Medical School, University of Sydney, NSW 2139, Sydney, Australia., Vais H; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Weissenrieder JS; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Lunko O; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Paudel U; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Simpson LC; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Raposo J; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Saporta M; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA.; Department of Neurology, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Arcia Y; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Xu I; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Feely S; Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, 55242 IA, USA., Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N36BG London, United Kingdom., Blake J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N36BG London, United Kingdom.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, NR4 7UY Norwich, UK., Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N36BG London, United Kingdom., Scherer S; Department of Neurology, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Kennerson M; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, NSW 2139, Sydney, Australia.; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, NSW 2139, Sydney, Australia., Lee YC; Department of Neurology, Taipei Veterans General Hospital, 112 Taipei, Taiwan., Foskett JK; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA.; Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Shy M; Department of Neurology, University of Iowa, Carver College of Medicine, Iowa City, 55242 IA, USA., Zuchner S; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Jun 28. Date of Electronic Publication: 2024 Jun 28.