Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy. The frequent superior cerebellar peduncles involvement may be specific to GAA-FGF14 ataxia, and its detection can support and accelerate the diagnosis. medRxiv medrxiv.org/content/10.110…

🧑‍⚕️Investigadoras e investigadores del Área de Neurociencias han publicado un artículo sobre la base genética de un nuevo fenotipo de distrofia muscular ➡️ doi.org/10.1093/brain/…  🔎 Nos han explicado el trabajo que han hecho ℹ️ biodonostia.org/descrito-un-nu…  #BiogipuzkoaPaper

It took 10 years to figure out the relevance of a new candidate gene for a muscle disease that we had identified, called SRPK3. With 13 co-authors from Newcastle, our manuscript has now been published in Nature Genetics! 👏🎖️ go.nature.com/3IsKVCB

Our new preprint on Neuroradiological findings in GAA-FGF14 (#SCA27B) #ataxia is out! Check it at the link Congratulations to all those who contributed! David Pellerin medrxiv.org/content/10.110…

From UCL Brain Sciences, with the support of a global team, I am thrilled to share our new disease-gene linked to Primary Familial Brain Calcification in Nature Communications. Read here how #NAA60 variants make the brain turn into calcified lumps disq.us/t/4nd64gp UCL The Neurogenetics Lab ION

Job alert 🚨!! We are looking for a postdoc in computational biology. If you are interested in #Neurogenetics, #RNA biology, short and #Nanopore sequencing, check our open position and apply 👇 tinyurl.com/rcshuym2 Any questions DM or email me!

Delighted to share our new preprint describing the spectrum of patients with biallelic variants in NOTCH3. We hope this work will allow a better understanding of NOTCH3-related phenotypes. papers.ssrn.com/sol3/papers.cf…

From Movement Disorders Journal: Friedrich’s ataxia is a rare, inherited, multisystemic disorder known to cause premature death. This study suggests that arrhythmias, progressive neurological disability, and diabetes mellitus may influence overall survival. loom.ly/rFED5y4

El Hospital Universitario Donostia Osakidetza designado como centro de referencia a nivel nacional para el tratamiento de enfermedades #neuromusculares. El neurólogo Roberto Fernández Torrón, explica lo que esto supone #EnfermedadesRaras noticiasdegipuzkoa.eus/sociedad/2024/… @notgip

🔴Comienza la International Conference on #Neurodegenerative Diseases 2024 #bilbaoconferenceNED🔴 #neurodegenerativas 🔗Noticia: ciberehd.org/noticias/bilba… #Parkinson #Alzheimer #esclerosismultiple #ELA #huntington #

So happy to see our RAB32 article out today on #WorldParkinsonsDay. We found RAB32 Ser71Arg in multiple ethnic groups, with the same haplotype. This makes me think it might not be that rare, relatively. This finding also implicate #LRRK2 kinase across multiple Mendelian forms.

🎊¡Publicada la Convocatoria JAE INTRO 2024!🎊 🧬Ofertamos 300 becas de introducción a la investigación en diferentes ámbitos de estudio. 🧬 ⌛Plazo de inscripción: del 20 de abril al 20 de mayo⌛ 🌐➡️ Consulta toda la información en sede.csic.gob.es/intro2024

Great to see our collaborative effort on the best practice guidelines on the genetic diagnostics of FSHD published in Clinical Genetics: onlinelibrary.wiley.com/doi/10.1111/cg…

📢We are pleased to share our latest publication, led by Juan Fortea (from Institut de Recerca Sant Pau) and vmbotwin11 (at BSC-CNS EAPM-BSC) published in Nature Medicine. nature.com/articles/s4159…. We have re-conceptualized APOE4 homozygotes as a genetic form of Alzheimer Disease. Thread 1/9

Estamos buscando una persona para un contrato formativo en la OTC de CIBER ISCIII ¡os agradecemos la difusión! empleate.gob.es/empleo/#/ofert…

➡️Gene Therapy webinar series organized by #EURONMD w/ @ERN_RND 🧠, EpiCARE & European Academy of Neurology. 📚 Episode 5: "Genetic therapies and therapy developments for epileptic disorders" by Prof. Dimitri Kullmann (UCL) ℹ️Register here 👉bit.ly/3UJf8mN

Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study thelancet.com/journals/laneu…

Happy to share our last study about patients with NOTCH3 biallelic variants! thelancet.com/journals/ebiom… Reza Maroofian The Neurogenetics Lab ION CESAR ALVES Rahema

Empezamos la tercera edición de nuestro #ConcursoSONES con nuestro primer caso, enviado desde el Hospital Universitario de Donostia por Kattalin Álvarez. Mucha suerte🍀 y que empiecen los retuits🔁!!

Le Dr Bernard Brais, neurologue et chercheur au Neuro, parle avec La Presse d'une maladie rare et débilitante qui est exceptionnellement répandue au #Québec. En savoir plus buff.ly/47saBLG