DM1 Steinert

Enhorabuena por la charla y enhorabuena a todos los investigadores que hacen posible que haya ensayos clínicos y más aún a los que dan como resultado nuevos tratamientos 👏👏👏

En unos días la colgaran en YouTube y la paso...

46 Ponencias cortas llenas de escepticismo, ciencia y humor ofrecido por divulgadores relacionados con la plataforma Naukas (antes Amazings.es)

Presentación de @varechavala.bsky.social sobre los Ensayos Clįnicos, los Registros de Pacientes, las Asociaciones de Pacientes de #EnfermedadesRaras en #NaukasBilbao2025
(desde el minuto 15)
www.eitb.eus/es/nahieran/...

#naukasbilbao25 Virginia Arechavala Gomeza @varechavala.bsky.social @varechavala@bird.makeup nos cuenta que si tú participas en un ensayo puedes dificultar que un medicamento llegue antes al mercado, pues tú puedes ser el unicornio que dificulta el análisis del ensayo (los criterios de inclusión)

Virginia @varechavala.bsky.social #Ikerbasque nos ha dado una charla magnífica en @naukas.bsky.social #NaukasBilbao2025 sobre los ensayos clínicos, sobre su importancia y sobre su objetivo fundamental: poder decidir si esa terapia propuesta además de segura es eficaz, si funciona o no. Enhorabuena!

Virginia ante una proyección sobre enfermedades raras

«No es ni una cura ni un último tren. Es un experimento»

Virginia Arechavala Gomeza

Entendiendo que criterios hay para entrar o no en un ensayo clínico.

#NaukasBilbao2025 #NaukasBilbao15aniversario #NaukasBilbao

12/ 🧬 También nos explica sus avances con #CaixaImpulse Innovación Beatriz Llamusí, directora científica y cofundadora de Arthex Biotech, que ha desarrollado una terapia de ARN para la distrofia miotónica. 🗣️👇

Efficacy and safety of respiratory strength and endurance training in patients with myotonic dystrophy type 1 (DM1): a randomized controlled trial - Journal of Neurology Background Myotonic dystrophy type 1 (DM1) is a multisystem disorder characterized by progressive muscle weakness, including the respiratory muscles, which often leads to ventilatory insufficiency. De...

German study: Efficacy and safety of respiratory strength and endurance training in patients with myotonic dystrophy type 1 (DM1): a randomized controlled trial link.springer.com/article/10.1...

Today we're supporting international myotonic dystrophy awareness day! #MyotonicDystrophy (DM) is an inherited multisystem condition that mainly causes progressive muscle loss, weakness and myotonia. Join us in raising awareness and supporting research: bit.ly/41Wng82

AMO Pharma Unveils Promising Long-Term Safety Data for AMO-02 in Congenital Myotonic Dystrophy Type 1 Treatment AMO Pharma shares encouraging long-term safety results from the REACHCDM-X study of AMO-02 for congenital myotonic dystrophy. FDA meeting planned.

AMO Pharma Unveils Promising Long-Term Safety Data for AMO-02 in Congenital Myotonic Dystrophy Type 1 Treatment #USA #London #Myotonic_Dystrophy #AMO_Pharma #AMO-02

The UofG tower illuminated green against a dark night sky.

Today is International #MyotonicDystrophy Awareness Day.

Myotonic dystrophy may affect as many as 1 in 2,100 people across the world.

Our tower will be illuminated in green this week to show support on the 5th annual awareness day 💚

More ➡️ myotonic.org

Landmarks light up green for Myotonic Dystrophy Awareness Day ALBANY, N.Y. (WRGB) — In recognition of International Myotonic Dystrophy Awareness Day, landmarks across the state, including Empire State Plaza, were illuminat

Monday night, landmarks across New York State were lit green to mark International Myotonic Dystrophy Awareness Day.

Scientists at #UAlbany's RNA Institute are leaders in #MyotonicDystrophy research & were behind New York's green glow this week.
cbs6albany.com/news/local/l...

Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1): protocol of an international natural history study https://www.medrxiv.org/content/10.1101/2025.08.13.25333647v1

The CMR gathers wearing green to celebrate International Myotonic Dystrophy Awareness Day to promote research & funding to improve the lives of those affected by DM, a neuromuscular disease causing progressive muscle weakness
@mda.org @myotonicstrong.bsky.social #muscle

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis Myotonic dystrophy is associated with dysphagia, which can lead to severe complications such as aspiration pneumonia and choking. However, few histopathological studies on dysphagia in myotonic dystro...

Japanese study: Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis journals.plos.org/plosone/arti...

FEBS Press We performed nanopore whole-transcriptome sequencing comparing RNA from Hnrnpl-knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results i...

Univ of Minnesota/Tufts study: The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells febs.onlinelibrary.wiley.com/doi/10.1002/...

🌍 60+ Global Alliance Organizations Recognize the 5th annual International #MyotonicDystrophy Awareness Day! 💚 We proudly celebrate the remarkable strength & resilience of the DM community around the world. 🌟 Read the full press release at www.myotonic.org/global-allia...

People living with #myotonicDystrophy have a 50% chance of passing it on to their children. Early genetic testing and counseling can save lives! Help change the future of #myotonicDystrophy on September 15! Learn more at: www.myotonic.org/internationa...

There's still time to Go #GreenForDM! Raising #myotonicDystrophy awareness is as simple as wearing green 💚 Join the MDF Team and the DM community — post your pic, use #myotonicDystrophy, and tag MDF to show your support on Awareness Day! 💪✨

¡Ahora disponible en español – Infografía sobre el ejercicio con #distrofiaMiotónica! El ejercicio puede optimizar la función corporal y mantener la fuerza. #myotonicDystrophy
👉 www.myotonic.org/sites/defaul...

¡Ahora en español: Recomendaciones sobre anestesia y #distrofiaMiotónica! La anestesia puede ser riesgosa en DM; este recurso ofrece información crucial para pacientes y familias.
#myotonicDystrophy
👉 www.myotonic.org/sites/defaul...

Journée Internationale de sensibilisation à la Dystrophie Myotonique - Institut de Myologie La Journée internationale de sensibilisation aux dystrophies myotoniques a lieu chaque année le 15 septembre. Elle a pour objectif de sensibiliser le corps médical, les responsables politiques et le g...

We support International #MyotonicDystrophy Awareness Day! 💚 Learn more about research & trials conducted by our teams⤵️

#myotonicDystrophy #myotonicDystrophyAwareness

@afm-telethon.bsky.social @afmtelethonpresse.bsky.social @myotonicstrong.bsky.social

www.institut-myologie.org/2025/09/15/j...

Wearing our greens in the lab at Biobizkaia for #MyotonicDystrophy awareness day.

@myotonicstrong.bsky.social

ARTHEx Biotech Upsizes Series B Financing Round to $87M to Advance Lead Program ATX-01 in Myotonic Dystrophy Type 1 and Expand Pipeline of Targeted RNA Medicines - Extension financing led by new investor Bpifrance, with renewed participation from all existing shareholders, AdBio Partners, CDTI Innovación, Columbus...

ARTHEx Biotech Upsizes Series B Financing Round to $87M to Advance Lead Program ATX-01 in Myotonic Dystrophy Type 1 and Expand Pipeline of Targeted RNA Medicines www.prnewswire.com/news-release...

Promoter-targeted small RNA duplexes increase MBNL1 transcription and mitigate myotonic dystrophy-associated spliceopathy Abstract. Functional depletion of Muscleblind-like (MBNL) proteins is a key trigger of myotonic dystrophy (DM)-associated alternative splicing (AltS) defec

Polish study: Promoter-targeted small RNA duplexes increase MBNL1 transcription and mitigate myotonic dystrophy-associated spliceopathy academic.oup.com/nar/article/...

Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers | Request PDF Request PDF | Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers | Purpose: To investigate experiences and perspectives of caregivers of people with adult...

Danish/Norwegian study: Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers www.researchgate.net/publication/...

OBGYN Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by trinucleotide repeat expansion. Pregnancies with DM1 are prone to complications, and congenital DM1 often presents with severe sy...

Japanese study: Three cases of pregnancies complicated with myotonic dystrophy type 1 obgyn.onlinelibrary.wiley.com/doi/10.1111/...

Hungarian study: Measuring Myotonia: Normative Values and Comparison with Myotonic Dystrophy Type 1 www.mdpi.com/2035-8377/17...

circARHGAP10 as a candidate biomarker and therapeutic target in myotonic dystrophy type 1 Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by expanded CTG repeats in the 3′-UTR of the DMPK gene that lead to nuclear foci ac…

Italian study: circARHGAP10 as a candidate biomarker and therapeutic target in myotonic dystrophy type 1 www.sciencedirect.com/science/arti...