DM1 Steinert
@dm1steinert.bsky.social
Información sobre la Distrofia Miotónica Tipo 1 (DM1) o Enfermedad de Steinert y difusión de los avances científicos que se producen.
Information on Myotonic Dystrophy Type 1 (DM1) or Steinert's Disease and dissemination of scientific advances.
Information on Myotonic Dystrophy Type 1 (DM1) or Steinert's Disease and dissemination of scientific advances.
Pinned
DM1 Steinert
@dm1steinert.bsky.social
· Dec 28
Relación de Estudios
2024 Diciembre New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target Alternative splicing of SORBS1 affects neuromuscular junction formation and stability in myoton…
bit.ly
Actualizada la Relación de estudios sobre la #DistrofiaMiotónica Tipo 1, #DM1 o Enfermedad de #Steinert
Updated the lists of articles about #MyotonicDystrophy Type 1
bit.ly/Estudios_DM1
Updated the lists of articles about #MyotonicDystrophy Type 1
bit.ly/Estudios_DM1
Reposted by DM1 Steinert
En unos días la colgaran en YouTube y la paso...
September 21, 2025 at 8:49 PM
En unos días la colgaran en YouTube y la paso...
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/...
(desde el minuto 15)
www.eitb.eus/es/nahieran/...
46
Ponencias cortas llenas de escepticismo, ciencia y humor ofrecido por divulgadores relacionados con la plataforma Naukas (antes Amazings.es)
www.eitb.eus
September 21, 2025 at 6:40 PM
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/...
(desde el minuto 15)
www.eitb.eus/es/nahieran/...
Reposted by DM1 Steinert
#naukasbilbao25 Virginia Arechavala Gomeza @varechavala.bsky.social @[email protected] 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)
September 20, 2025 at 8:25 AM
#naukasbilbao25 Virginia Arechavala Gomeza @varechavala.bsky.social @[email protected] 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)
Reposted by DM1 Steinert
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!
September 20, 2025 at 9:34 AM
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!
Reposted by DM1 Steinert
«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
Virginia Arechavala Gomeza
Entendiendo que criterios hay para entrar o no en un ensayo clínico.
#NaukasBilbao2025 #NaukasBilbao15aniversario #NaukasBilbao
September 20, 2025 at 8:24 AM
«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
Virginia Arechavala Gomeza
Entendiendo que criterios hay para entrar o no en un ensayo clínico.
#NaukasBilbao2025 #NaukasBilbao15aniversario #NaukasBilbao
Reposted by DM1 Steinert
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. 🗣️👇
July 8, 2025 at 10:13 AM
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. 🗣️👇
Reposted by DM1 Steinert
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...
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...
link.springer.com
September 12, 2025 at 11:34 AM
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...
Reposted by DM1 Steinert
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
September 15, 2025 at 9:13 AM
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
Reposted by DM1 Steinert
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
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.
third-news.com
September 15, 2025 at 12:31 PM
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
Reposted by DM1 Steinert
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
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
September 15, 2025 at 2:59 PM
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
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
Reposted by DM1 Steinert
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...
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...
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
cbs6albany.com
September 17, 2025 at 3:20 PM
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...
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...
Reposted by DM1 Steinert
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
August 20, 2025 at 4:26 AM
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
Reposted by DM1 Steinert
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
@mda.org @myotonicstrong.bsky.social #muscle
September 15, 2025 at 2:13 AM
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
@mda.org @myotonicstrong.bsky.social #muscle
Reposted by DM1 Steinert
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...
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...
journals.plos.org
September 15, 2025 at 12:21 PM
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...
Reposted by DM1 Steinert
Univ of Minnesota/Tufts study: The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells febs.onlinelibrary.wiley.com/doi/10.1002/...
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...
febs.onlinelibrary.wiley.com
September 15, 2025 at 12:23 PM
Univ of Minnesota/Tufts study: The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells febs.onlinelibrary.wiley.com/doi/10.1002/...
Reposted by DM1 Steinert
🌍 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...
September 15, 2025 at 4:00 AM
🌍 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...
Reposted by DM1 Steinert
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...
September 10, 2025 at 5:25 PM
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...
Reposted by DM1 Steinert
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! 💪✨
September 16, 2025 at 12:07 AM
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! 💪✨
Reposted by DM1 Steinert
¡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...
👉 www.myotonic.org/sites/defaul...
September 16, 2025 at 5:39 AM
¡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...
👉 www.myotonic.org/sites/defaul...
Reposted by DM1 Steinert
¡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...
#myotonicDystrophy
👉 www.myotonic.org/sites/defaul...
September 16, 2025 at 5:54 AM
¡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...
#myotonicDystrophy
👉 www.myotonic.org/sites/defaul...
Reposted by DM1 Steinert
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...
#myotonicDystrophy #myotonicDystrophyAwareness
@afm-telethon.bsky.social @afmtelethonpresse.bsky.social @myotonicstrong.bsky.social
www.institut-myologie.org/2025/09/15/j...
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...
www.institut-myologie.org
September 15, 2025 at 11:08 AM
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...
#myotonicDystrophy #myotonicDystrophyAwareness
@afm-telethon.bsky.social @afmtelethonpresse.bsky.social @myotonicstrong.bsky.social
www.institut-myologie.org/2025/09/15/j...
Reposted by DM1 Steinert
Wearing our greens in the lab at Biobizkaia for #MyotonicDystrophy awareness day.
@myotonicstrong.bsky.social
@myotonicstrong.bsky.social
September 16, 2025 at 1:17 PM
Wearing our greens in the lab at Biobizkaia for #MyotonicDystrophy awareness day.
@myotonicstrong.bsky.social
@myotonicstrong.bsky.social
Reposted by DM1 Steinert
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...
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...
www.prnewswire.com
September 17, 2025 at 12:32 PM
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...
Reposted by DM1 Steinert
Polish study: Promoter-targeted small RNA duplexes increase MBNL1 transcription and mitigate myotonic dystrophy-associated spliceopathy academic.oup.com/nar/article/...
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
academic.oup.com
August 20, 2025 at 12:26 PM
Polish study: Promoter-targeted small RNA duplexes increase MBNL1 transcription and mitigate myotonic dystrophy-associated spliceopathy academic.oup.com/nar/article/...