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Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2016, Volume 53, Issue 5, pp. 762 - 769
IntroductionHereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal lattice... 
cranial neuropathy | amyloidosis | gelsolin | bilateral facial paresis | facial paresis grading | Facial paresis grading | Amyloidosis | Gelsolin | Cranial neuropathy | Bilateral facial paresis | GSN GENE | NEUROSCIENCES | FINNISH TYPE FAF | POLYNEUROPATHY TYPE-IV | CLINICAL NEUROLOGY | LATTICE CORNEAL-DYSTROPHY | HEARING-LOSS | NEUROPATHY | FAMILIAL AMYLOIDOSIS | MERETOJAS SYNDROME | HEREDITARY AMYLOIDOSIS | MUTATION | Vestibulocochlear Nerve Diseases - physiopathology | Cutis Laxa - etiology | Humans | Middle Aged | Vestibulocochlear Nerve Diseases - etiology | Oculomotor Nerve Diseases - etiology | Male | Amyloid Neuropathies, Familial - physiopathology | Facial Nerve Diseases - etiology | Hypoglossal Nerve Diseases - physiopathology | Corneal Dystrophies, Hereditary - physiopathology | Facial Paralysis - physiopathology | Aged, 80 and over | Adult | Female | Electromyography | Amyloidosis - complications | Cranial Nerve Diseases - physiopathology | Hypoglossal Nerve Diseases - etiology | Trigeminal Nerve Diseases - physiopathology | Trigeminal Nerve Diseases - etiology | Amyloid Neuropathies, Familial - complications | Amyloidosis - physiopathology | Neural Conduction | Facial Nerve Diseases - physiopathology | Oculomotor Nerve Diseases - physiopathology | Facial Muscles - physiopathology | Cranial Nerve Diseases - etiology | Corneal Dystrophies, Hereditary - complications | Aged | Facial Paralysis - etiology | Development and progression | Paralysis, Facial | Gene mutations | Wood products | Workshops | Index Medicus
Journal Article
Journal of Neuro-Oncology, ISSN 0167-594X, 04/2015, Volume 122, Issue 2, pp. 313 - 320
Neurofibromatosis type 2 (NF2) is a genetic disorder with bilateral vestibular schwannomas (VS) as the most frequent manifestation. Merlin, the NF2 tumor... 
Neurofibromatosis 2 | Meningioma | Tumor stabilization | Time to tumor progression | Vestibular schwannoma | BEVACIZUMAB | RADIOGRAPHIC REGRESSION | NATURAL-HISTORY | HEARING | TUMOR-CONTROL | CLINICAL NEUROLOGY | TRIAL | TUBEROUS SCLEROSIS COMPLEX | STEREOTACTIC RADIOSURGERY | ONCOLOGY | GROWTH | Neurofibromatosis 2 - drug therapy | Prospective Studies | Vestibulocochlear Nerve Diseases - physiopathology | Follow-Up Studies | TOR Serine-Threonine Kinases - metabolism | Humans | Cranial Nerve Neoplasms - drug therapy | Male | Antineoplastic Agents - therapeutic use | Mechanistic Target of Rapamycin Complex 1 | Multiprotein Complexes - antagonists & inhibitors | TOR Serine-Threonine Kinases - antagonists & inhibitors | Young Adult | Multiprotein Complexes - metabolism | Antineoplastic Agents - adverse effects | Cranial Nerve Neoplasms - physiopathology | Neurofibromatosis 2 - physiopathology | Everolimus - adverse effects | Biomarkers, Tumor - metabolism | Adult | Everolimus - therapeutic use | Female | Vestibulocochlear Nerve Diseases - drug therapy | Treatment Outcome | Tumor Burden | Disease Progression | Neurilemmoma - pathology | Neurilemmoma - physiopathology | Neurofibromatosis 2 - pathology | Disease-Free Survival | Vestibulocochlear Nerve Diseases - pathology | Cranial Nerve Neoplasms - pathology | Neurilemmoma - drug therapy | Adolescent | Medicine, Experimental | Medical research | Neurofibromatosis | Index Medicus
Journal Article
Hearing Research, ISSN 0378-5955, 02/2016, Volume 332, pp. 29 - 38
Cochlear neuropathy, i.e. the loss of auditory nerve fibers (ANFs) without loss of hair cells, may cause hearing deficits without affecting threshold... 
Wideband reflectance | Cochlear neuropathy | Middle-ear muscle reflex | Medial olivocochlear reflex | Acoustic overexposure | Hidden hearing loss | IMPEDANCE AUDIOMETRY | HAIR CELL LOSS | SENSORINEURAL HEARING-LOSS | AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY | OLIVOCOCHLEAR REFLEX | CENTRAL PROJECTIONS | NEUROSCIENCES | ACETYLCHOLINE-RECEPTOR | PRODUCT OTOACOUSTIC EMISSIONS | OTORHINOLARYNGOLOGY | ACOUSTIC STAPEDIUS REFLEX | AUDITORY-NERVE FIBERS | PHARMACOLOGICAL-PROPERTIES | Cochlear Nerve - drug effects | Cochlear Nerve - physiopathology | Predictive Value of Tests | Vestibulocochlear Nerve Diseases - physiopathology | Audiometry | Hearing Loss, Noise-Induced - etiology | Vestibulocochlear Nerve Diseases - etiology | Reflex - drug effects | Male | Muscle, Skeletal - innervation | Synaptic Transmission | Curare - administration & dosage | Mice, Inbred CBA | Vestibulocochlear Nerve Diseases - diagnosis | Disease Models, Animal | Hearing Loss, Noise-Induced - physiopathology | Hearing Loss, Noise-Induced - diagnosis | Acoustic Stimulation | Ear, Middle - innervation | Auditory Threshold | Strychnine - administration & dosage | Neuromuscular Nondepolarizing Agents - administration & dosage | Animals | Auditory Fatigue | Noise - adverse effects | Otoacoustic Emissions, Spontaneous | Early Diagnosis | Index Medicus | Cochlear Neuropathy | Hidden Hearing Loss | Middle-Ear Muscle Reflex | Wideband Reflectance | Medial Olivocochlear Reflex | Acoustic Overexposure
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