uni-tuebingen.de Methods Prospective 2-year follow-up of the natural history of the main presenting symptoms in a homozygous DARS2 mutation carrier ... sustained treatment response to a carbonic ...

3 Institute of Clinical Neuroscience, Royal Prince Alfred Hospital, University of Sydney, Sydney, New South Wales, Australia Background and objective Heterozygous mutations in KCNA1 cause episodic ...

Several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism spectrum disorder (ASD), as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3 ...

COPD is a progressive lung disease with mild symptoms in the early stages that gradually worsen. Early diagnosis and treatment can help preserve lung function. People with COPD often have trouble ...

2 described the "meat-intoxication" syndrome — that is, stupor, ataxia, convulsions and coma ... grimacing were occasionally noted. These symptoms evolved over a 10-month period in fluctuating ...

Oryx’s old ship brings bigger obstacles, some secrets, and rewards like Adept episodic weapons for taking more significant challenges. The Dreadnaught’s return is no surprise, but today’s ...

BACKGROUND: To our knowledge, there have been no reports on the control of central nervous system symptoms in patients with ataxia-telangiectasia. OBJECTIVE: To preliminarily determine the ...

Walilko knew something was wrong—yet says clinicians continued to brush off her symptoms. After doing internet research, she figured out that her boyfriend was likely a strep carrier ...

This study aimed to investigate the utility of multi-omics for the identification and validation of molecular candidates in a cohort of complex cases of ataxia with episodic presentation. Methods: ...