Results 191 to 200 of about 125,979 (217)
Objective To report 45 cases of melioidosis in dogs and cats from northern Australia and analyse trends in epidemiology, clinical presentation, pathogenesis and response to treatment over a 27‐year period. Design Retrospective and prospective analysis of clinical records.
K Lee +6 more
wiley +1 more source
ABSTRACT Background Psychotropics are increasingly prescribed in paediatrics despite limited evidence regarding their benefits and effectiveness. Although deprescribing approaches are established in adults, structured paediatric strategies remain poorly defined.
Paul‐Benoît Fargier +6 more
wiley +1 more source
GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus +7 more
wiley +1 more source
Episodic Ataxia Secondary to CEP290 Compound Heterozygous Mutations: A Case Report. [PDF]
Hamed M +5 more
europepmc +1 more source
ABSTRACT Objectives TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but ...
Margherita Milone +7 more
wiley +1 more source
Summary A 2‐year‐old Arabian filly presented with acute onset grade 4/5 (AAEP) right forelimb lameness and hindlimb ataxia following a collision with another horse and subsequent fall. The right forelimb lameness was associated with marked scapulohumeral joint instability.
O. E. Newman, B. Dunkel, M. Perrier
wiley +1 more source
Clinical manifestations of episodic ataxia type 5. [PDF]
González Sánchez M +5 more
europepmc +1 more source
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity. [PDF]
Paulhus K, Ammerman L, Glasscock E.
europepmc +1 more source
When to consider an inborn error of immunity: clues for physicians
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel. [PDF]
Zhao J +4 more
europepmc +1 more source

