Results 51 to 60 of about 39,513 (283)

Correlating familial Alzheimer’s disease gene mutations with clinical phenotype [PDF]

, 2010
Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it.
Rossor, M.N., Ryan, N.S.
core   +1 more source

Idiopathic head tremor in english bulldogs [PDF]

, 2014
Idiopathic head tremor (IHT) syndrome is a recognized but poorly characterized movement disorder in English bulldogs (EBs). The data analyzed were collected via a detailed online questionnaire and video recordings.
Bagley, Deuschl, Forman, Gill, Harcourt-Brown, Herrtage, Jokinen, Lahunta, Lahunta, Leegwater-Kim, Louis, Meyers, Nakahata, Packer, Penderis, Ramsey, Teive, Tremor, myoclonus, focal dystonias, and tics, Wolf, Woods   +19 more
core   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

To study the effect of three different doses of dexmedetomidine as premedication on the incidence and severity of etomidate-induced myoclonus

The Indian Anaesthetists' Forum, 2023
Background and Aims: Etomidate, a carboxylated imidazole is a rapid-acting nonbarbiturate, nonopioid hypnotic agent that has unique hemodynamic stability, favorable toxic profile, and rapid recovery after a single dose.
Ketki Kaushal, Anita Kumari, Pooja Abbi, Ruchi Gupta   +3 more
doaj   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

Electrophysiologic testing aids diagnosis and subtyping of myoclonus [PDF]

, 2018
OBJECTIVE: To determine the contribution of electrophysiologic testing in the diagnosis and anatomical classification of myoclonus. METHODS: Participants with a clinical diagnosis of myoclonus were prospectively recruited, each undergoing a videotaped ...
Elting, Jan W., Gelauff, Jeannette M., Peall, Kathryn J., Roosendaal, Christiaan M., Tijssen, Marina A. J., van der Hoeven, J. Han, van Zijl, Jonathan C., Zutt, Rodi   +7 more
core   +3 more sources

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Clinical profile and etiological spectrum of myoclonus in a tertiary care movement disorders clinic from India: An observational study

Annals of Movement Disorders
BACKGROUND: Myoclonus is a rapid, brief, involuntary jerking of a muscle or group of muscles. It can arise from various etiologies, and it may be a predominant feature in several movement disorders.
Govind Madhaw, Mritunjai Kumar, Ashutosh Tiwari, Niraj Kumar   +3 more
doaj   +1 more source