Results 51 to 60 of about 7,066 (221)

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

Electroencephalogram of Healthy Horses During Inhaled Anesthesia. [PDF]

, 2015
BackgroundPrevious study of the diagnostic validity of electroencephalography (EEG) to detect abnormalities in equine cerebral cortical function relied on the administration of various drugs for sedation, induction, and maintenance of general anesthesia ...
Aleman, MR, Brosnan, RJ, Fletcher, DJ, Holliday, TA, Kass, PH, LeCouteur, RA, Steffey, EP, Tharp, B, Williams, DC   +8 more
core   +1 more source

Seminars in epileptology: How to diagnose status epilepticus in adults and children

Epileptic Disorders, EarlyView.
Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger, P. Bosque‐Varela, G. Kuchukhidze, U. Leitner, J. Höfler, G. Kalss, F. Rossini, G. Pilz, H. Novak, M. Mauritz, K. Poppert, A. Toma, E. Trinka   +12 more
wiley   +1 more source

TUBA1A‐related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures

Epileptic Disorders, EarlyView.
Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng, Morris H. Scantlebury   +1 more
wiley   +1 more source

Congenital nystagmus and negative electroretinography

Clinical Ophthalmology, 2011
Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about
Roussi M, Dalens H, Marcellier JJ, Bacin F   +3 more
doaj  

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples. Objectives To describe clinical, radiological, and genetic
Ekhlas Assaedi, Setareh Ashtiani, Mehrdad A. Estiar, Ziv Gan‐Or, Erica D. McKenzie, Aakash Shetty, Guy Rouleau, Oksana Suchowersky   +7 more
wiley   +1 more source

UNERTAN SYNDROME: A CASE SERIES DEMONSTRTAING HUMAN DEVOLUTION [PDF]

, 2007
A large family with six individuals exhibiting the Unertan syndrome (UTS) was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities. The intra-familial marriages suggested that the UTS is
BAGCI, Dr. Namik Kemal, KARACA, Dr. Sibel, OZKUR, Dr. Ayhan, PENCE, Assoc. Prof. Sadrettin, TAN, Assoc. Prof. Meliha, TAN, Prof. Dr. Uner, YILMAZ, Dr. Bekir   +6 more
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The efficacy of Gufoni maneuver for treating geotropic nystagmus horizontal semicircular canal benign paroxysmal positional vertigo

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To investigate the efficacy of Gufoni maneuver for treating geotropic nystagmus horizontal semicircular canal benign paroxysmal positional vertigo (BPPV).
Juan-juan GENG, Ying-hua CHEN, Yan DUAN, Cui-qing ZHAO, Qi-sheng LU   +4 more
doaj  

Cerebral fat embolism syndrome mimicking thrombotic thrombocytopenic purpura in a patient with Hemoglobin SC disease [PDF]

, 2016
Case Presentation A 54 year‐old man with hemoglobin SC disease (HbSC) and a history of substance abuse presented to the Emergency Department from a nursing home with two days of progressive weakness, shortness of breath, and lower back pain.
Devnani, Rohit, Kammeyer, Ryan, Mehta, Rakesh   +2 more
core   +1 more source

Clinical analysis on canal conversion of otolith in the treatment of geotropic nystagmus horizontal semicircular canal benign proxysmal positional vertigo by Barbecue maneuver

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To explore the correct diagnosis and treatment of canal conversion of otolith in the treatment of geotropic nystagmus horizontal semicircular canal benign paroxysmal positional vertigo (BPPV) by Barbecue maneuver. Methods and Results There were
Juan-juan GENG, Hui-e HUANG, Chi ZHANG, Yong CUI   +3 more
doaj