Results 121 to 130 of about 440,375 (147)

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease. [PDF]

Mov Disord
Wang X, Fearnley LG, Davies KC, Snell P, Lee S, Jackson VE, Read J, Milton M, Harding IH, Delatycki MB, Szmulewicz DJ, Lockhart PJ, Bahlo M, Rafehi H.   +13 more
europepmc   +1 more source

A 50-Year Cough: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS). [PDF]

Dtsch Arztebl Int
Erdmann H, Abicht A, Strupp M.
europepmc   +1 more source

RFC1 Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications. [PDF]

J Peripher Nerv Syst
Gajate-García V, Fenollar-Cortés M, Galán L, Oancea-Ionescu R, Guerrero-Solá A, Horga A.   +5 more
europepmc   +1 more source

Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene. [PDF]

Ann Indian Acad Neurol
Dash A, Mustafa F, Agarwal A, Garg D, Pandit AK, Srivastava AK, Radhakrishnan DM.   +6 more
europepmc   +1 more source

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Neurophysiological Evidence for Generalized Sensory Neuronopathy in Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome

Muscle and Nerve, 2015
ABSTRACTIntroduction: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. The characteristic clinical sign is an abnormal visually enhanced vestibuloocular reflex.
Elsdon Storey, David Szmulewicz, G Michael Halmagyi   +2 more
exaly   +3 more sources

Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS) in an Imbalance Patient

Acta Otorrinolaringologica (English Edition), 2014
Servicio de Otorrinolaringologia, Hospital General de Gran Canaria Dr. Negrin, Las Palmas de Gran Canaria, Espana Servicio de Rehabilitacion, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Espana Servicio de Neurologia, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Espana ado de http://www ...
Jesús J, Benítez del Rosario, María Elvira, Santandreu Jiménez, Manuel, Lousa Gayoso   +2 more
exaly   +3 more sources

[Bilateral vestibular areflexia: quantification is required].

Annales d'oto-laryngologie et de chirurgie cervico faciale : bulletin de la Societe d'oto-laryngologie des hopitaux de Paris, 2002
Bilateral vestibular loss, that should be more precisely qualified as "horizontal semicircular canal bilateral loss", is a concept usually defined by the following characteristics: - no response to caloric tests, - no response to pendular test with a 20-second period, - increasing gain of the cervico-ocular reflex. We present five cases.
E, Ulmer, J, Magnan, A, Chays
openaire   +1 more source

[Spatial positional orientation in deaf-mute individuals with bilateral vestibular areflexia].

Ceskoslovenska otolaryngologie, 1990
Ten deaf-mute subjects with total vestibular areflexia were subjected to positional tests, i.e. assessment of the postural subjective vertical and horizontal plane by deviations in the frontal and sagittal plane. The tests were performed in the author's modification of a Grahe table.
openaire   +1 more source