Objective

To describe the clinical and molecular genetic findings in a family segregating a novel mutation in the AIFM1 gene on the X chromosome.

Objective

To investigate the pathogenicity of the TGM6 variant for spinocerebellar ataxia 35 (SCA35), which was previously reported to be caused by pathogenic mutations in the gene TGM6.

Yu Liu, Shuhua Qi, Fridtjof Thomas, Brittany L. Correia, Angela P. Taylor, Roy V. Sillitoe, and Detlef H. Heck

Respiration is controlled by central pattern generating circuits in the brain stem, whose activity can be modulated by inputs from other brain areas to adapt respiration to autonomic and behavioral demands. The cerebellum is known to be part of the neuronal circuitry activated during respiratory challenges, such as hunger for air, but has not been found to be involved in the control of spontaneous, unobstructed breathing (eupnea). Here we applied a measure of intrinsic rhythmicity, the CV2, which evaluates the similarity of subsequent intervals and is thus sensitive to changes in rhythmicity at the temporal resolution of individual respiratory intervals. The variability of intrinsic respiratory rhythmicity was reduced in a mouse model of cerebellar ataxia compared to their healthy littermates. Irrespective of that difference, the average respiratory rate and the average coefficient of variation (CV) were comparable between healthy and ataxic mice. We argue that these findings are consistent with a proposed role of the cerebellum in modulating the duration of individual respiratory intervals, which could serve the purpose of coordinating respiration with other rhythmic orofacial movements, such as fluid licking and swallowing.

Pennsylvania Gov. Tom Wolf has a brewing rebellion on his hands as counties set out to defy his plans.

In today's Diary: XR activist says politicians aren't scared enough of the movement / Avgeeks make plane food at home / Sara Britcliffe's slight omission / Ellie Reeves on a positive of remote working

A group calling themselves 'HS2 Rebellion' have blocked the entrance to a building site at Euston.

Extinction Rebellion activists have sprayed fake oil over the Barclays head office in an apparent breach of lockdown rules.

Mikel Arteta has warned Arsenal's wantaway stars and prospective transfer targets that they shouldn't need convincing to play for the club.

Pavement chalking to draw attention to wild flowers and plants in urban areas has gone viral across Europe – but UK chalkers could face legal action

• Read more stories from our wild cities week

A rising international force of rebel botanists armed with chalk has taken up street graffiti to highlight the names and importance of the diverse but downtrodden flora growing in the cracks of paths and walls in towns and cities across Europe.

The idea of naming wild plants wherever they go – which began in France – has gone viral, with people chalking and sharing their images on social media. More than 127,000 people have liked a photo of chalked-up tree names in a London suburb, while a video of botanist Boris Presseq of Toulouse Museum of Natural History chalking up names to highlight street flowers in the French city has had 7m views.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

Feb 6, 2020

Armed rebel groups push for funding and recognition, and often get it.

The Obama administration's proposal to spend $500 million on training and equipping “appropriately vetted elements of the moderate Syrian armed opposition” leaves unanswered some of the same questions that always have surrounded proposals to give lethal aid to Syrian rebels. Some of those questions involve the challenges in determining who qualifies as a “moderate.” “Vetting”…

No complex masterplans, they simply deleted the cars and invited the public to come and play.

Two weeks of climate action are starting on April 15.

Here's a frequent question asked by people wanting to create positive sustainable changes in the world: Is it more effective to work as a change agent from inside the current system or is it better to

Almost 30% of shareholders voted to reject remuneration report

Energy companies facing climate protests need to limit the wasteful use of their products

In true Nickelodeon style, the Australian funny-woman celebrated her win by being doused in buckets of green slime while posing with her new blimp-shaped trophy.

It's only been a half-day since Roy Moore became the presumptive next senator from Alabama, and he's already parting ways with the president on how to replace the Obamacare law.

Republican Sen. Rand Paul said he will vote for a resolution denying President Trump emergency powers to build his border wall, a move that could set up the first presidential veto.

British citizens currently in Mali, in west Africa are being urged to leave after the Foreign Office has changed its travel advice.

Jeremy Corbyn wrote to opposition parties and Tory rebels inviting the SNP, the Lib Dems, Plaid Cymru, the Greens, Change UK and five Conservatives to am August 27 meeting to stop No Deal.

Rebel Wilson, 39, looked in high spirits as she enjoyed a low-key stroll with her unlikely pal Darius Campbell, 38, in Portofino, Italy on Monday.

Rebel Wilson has been lazing on board a luxury yacht - and reminding fans of what they're missing.

A few days ago, Rebel Wilson had been lazing on board a luxury yacht, being gently rocked by ocean waves. 

The Australian actress, 39, cut a very chic figure in a form-fitting navy and black dress as she stepped out following dinner at Craig's restaurant in West Hollywood, California on Wednesday.

Rebel Wilson enjoyed some timeout in London at the Wimbledon Tennis Championships.

She's one of the biggest stars in Hollywood, known for films including Pitch Perfect and How To Be Single. 

The actress, 39, arrived at the All England Lawn Tennis and Croquet Club in south-west London for day seven of the Wimbledon Tennis Championships on Monday.

She's quickly become an A-list star Hollywood, thanks to her hit films including Pitch Perfect and How To Be Single. 

Rebel Wilson surprised fellow spectators a Wimbledon this week after she was spotted in the crowd cheering on Czech tennis star Karolína Muchová. 

Rebel Wilson is continuing to make the most of the European summer, after being spotted in the crowd at Wimbledon last week.

She stars in the trailer for film Cats, alongside Taylor Swift and Idris Elba.  

He sat in the director's chair for Thor: Ragnorak and will resume his directorial duties for upcoming movie Thor: Love and Thunder. 

Rebel Wilson recently starred in romantic-comedy flick, Isn't It Romantic. And on Wednesday, the Australian actor debuted a sneak peek from her new 'dating podcast' Let's Make Love.

She's the Australian actress who has made it big in Hollywood. 

Before Rebel Wilson made a name for herself in Hollywood, she studied law and arts at the University of New South Wales (UNSW