JorgeAP @ap_jalonsop

Neurologist focused on neuromuscular diseases and clinical and translational research. Canary Islands, Spain Joined June 2014

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Berta @Bertaestevez_

3 weeks ago

🚀 Thrilled to share our new paper in Annals of Neurology! @ANA_journals We report a new phenotype linked to DARS2, establishing it as a causal gene for axonal neuropathy, a step forward in neuromuscular genetics 🧬 A long journey, but totally worth it! 🔗 doi.org/10.1002/ana.78…

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Francisco Martínez @FranMartinezGr

3 weeks ago

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1002/an…

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Francisco Martínez @FranMartinezGr

3 weeks ago

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy #RareDisease #Genetics humgenomics.biomedcentral.com/articles/10.11…

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José Verdú Díaz @Jose_Verdu_Diaz

2 months ago

🚨New PhD studentship opportunity: "Modelling of Disease Progression in Facioscapulohumeral muscular dystrophy (FSHD) through Multi-Omic and Clinical Data Integration". ncl.ac.uk/postgraduate/f…

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Marcus Pinto, MD, MS @MarcusVPinto

2 months ago

This is a very cool study from Profs. Lunn and Rinaldi’s groups. Periaxin is a promising biomarker of peripheral nerve demyelination. Larger studies are needed, but it appears to be the “Nfl” of the Schwann cells, as it was normal in MS patients. academic.oup.com/brain/advance-…

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Marcus Pinto, MD, MS @MarcusVPinto

9 months ago

After more than 40 years, a new therapy for CIDP has arrived: EFGARTIGIMOD (VYVGART). In this post, I break down the key findings from the ADHERE trial that led to FDA-approval and share how this breakthrough has changed my clinical practice. thelancet.com/journals/laneu… 1/X

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Matthew S. Alexander @Matt_Muscle_Guy

2 months ago

New @NatureMedicine paper: AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial. #DMD tinyurl.com/bdhwrkka

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JWMDRC @jwmdrc

3 months ago

Today is #WorldFSHDDay! Facioscapulohumeral muscular dystrophy (FSHD) is a genetic condition that causes progressive muscle weakening, often starting in the face, shoulders, and upper arms. Join us in raising awareness and supporting research. #WorldFSHDDay 🍊

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SJDNeuromusculares @SJD_NMuscular

3 months ago

💙 Volem agrair de tot cor a l’associació #ForçAME per la seva constància recaptant fons amb actes i accions solidàries Estem molt orgullosos de rebre els 15.000 € recaptats aquest 2025. Continuarem treballant per la recerca i l’atenció multidisciplinària de l’AME 🔬

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Revista Neurología @RevisNeurologia

3 months ago

Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum elsevier.es/es-revista-neu…

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JWMDRC @jwmdrc

3 months ago

We are pleased to announce a new paper published on a study aimed to characterise a large cohort of paediatric and adult patients with Becker muscular dystrophy (#BMD) to inform clinical care and the development of standards of care guidelines 👏 link.springer.com/content/pdf/10…

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Matthew S. Alexander @Matt_Muscle_Guy

3 months ago

New #SkeletalMuscle paper: Contrasting Becker and Duchenne muscular dystrophy serum biomarker candidates by using data independent acquisition LC-MS/MS. tinyurl.com/3e9xkv43

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Matthew S. Alexander @Matt_Muscle_Guy

3 months ago

New @NatureComms paper: Complementing muscle regeneration—fibro-adipogenic progenitor and macrophage-mediated repair of elderly human skeletal muscle. tinyurl.com/yvr65vm9

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IGTP @GTRecerca

3 months ago

🚀 The national, multicentre study DM1-Hub held its launch event yesterday at IGTP 🎯 The project, led by the GRENBA group, aims to transform research and care for Myotonic Dystrophy Type 1 Read more: bit.ly/launch_DM1Hub #DM1Hub #GRENBA

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Sarepta Therapeutics @Sarepta

3 months ago

News: The U.S. FDA granted Platform Technology Designation to SRP-9003, Sarepta’s investigational gene therapy for the treatment of LGMD type 2E/R4. This is one of the first programs to receive the technology designation. Read more at Sarepta.com.

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GeneticaSantPau @GeneticaSantPau

3 months ago

New paper from @GeneticaSantPau team: Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases. pubmed.ncbi.nlm.nih.gov/40413734/ congrats to first author @AlbaSegarraC and rest of the team @IRSantPau @HospitalSantPau @CIBERER @UABBarcelona @AEGHgenetica

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Muscular Dystrophy News Today @mdnewstoday_

3 months ago

Long-term data from Genethon’s GNT0004 Phase 1/2 trial reveal sustained motor function in boys with Duchenne muscular dystrophy. buff.ly/O7gvVfx #MuscularDystrophyNews #MuscularDystrophy

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Prof. Toshi Yokota PhD FCAHS @MD_Canada Res Chair @ToshifumiYokota

3 months ago

Excited to share our latest preprint: 🧬 “Brogidirsen and Exon 44 Skipping for DMD: Advances and Challenges in RNA-Based Therapy” preprints.org/manuscript/202… Proud of Annie Tang’s excellent work leading this review. #DMD #RNAtherapy #exonskipping #ASO @Preprints_org @UAlberta_FoMD

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Proyecto Alpha @proyectoalpha_

4 months ago

Ayúdanos🙏 ¿Cómo votar? 1️⃣ Entra en el siguiente enlace: a.cstmapp.com/gallery/992266… 2️⃣ Busca “Proyecto Alpha” (está en la página 3) 3️⃣ Regístrate con tu nombre, apellidos y correo electrónico 4️⃣ Confirma tu voto desde el email que recibirás (¡muy importante este paso!)