Blog Archives
Variants in PYROXD1 cause early-onset myopathy with distinctive histopathology
PYROXD1 is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). Complementation experiments in yeast lacking glutathione reductase glr1 show that human PYROXD1 has reductase activity that is strongly impaired by the disease-associated missense mutations. Immunolocalization studies in human muscle and zebrafish myofibers demonstrate that PYROXD1 localizes to the nucleus and to striated sarcomeric compartments. Zebrafish with pryroxD1 … [Read more]
Institute seminar – 21 November – Athanassia Sotiropoulos (France)
Role of Serum Response Factor in skeletal muscle plasticity Athanassia Sotiropoulos (Institut Cochin, Paris, France) Monday 21 November 2016 – 12:00-13:00 Host : Stéphane Vassilopoulos Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
YposKesi, the 1st French industrial pharmaceutical company for producing gene and cell therapy drugs for rare diseases
AFM-Téléthon and the ‘Sociétés de Projets Industriels’ SPI [Industrial Projects Companies] investment fund, managed by Bpifrance under the Programme d’Investissement d’Avenir (PIA), are creating YposKesi, the first French company to develop and produce gene and cell therapy products. This new company aims to make the first treatments available to patients and market them at a … [Read more]
Garou, mentor of Telethon 2016
For the 30th Telethon, Garou will be the ambassador of all previous mentors! Telethon 2016 will take place on December 2nd and 3rd, 2016. Save the date! “When you are the mentor of the Telethon once, you are one forever.” Faithful to the Telethon and extremely generous, Garou wants to stand by the Generation … [Read more]
Institute seminar – 7 November – Pr Roland FOISNER (Austria)
Chromatin regulation by lamins and implications for premature aging disease Pr Roland FOISNER (Medical University Vienna, Austria) Monday 7 November 2016 – 17:00-18:00 Host : Maria Chatzifrangkeskou Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Unravelling the myotonic dystrophy type 1 clinical spectrum
The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is … [Read more]
A novel technique to evaluate motor function
Physiotherapists are demanding of valid outcome measures to assess the evolution of their patient’s motor functions in order to precisely describe the effects of treatments and the progress of diseases. Hence, several scales such as the motor function measure (MFM) have been developed with the aim to measure, with validity and reproducibility and sensitivity, the … [Read more]
Prevention and treatment of scoliosis by Garches Brace in children with type Ib SMA
Current studies on orthopedic management of scoliosis in most severe SMA patients are limited to type 2 and 3 SMA with scoliosis evolving between 54 and 95°Cobbangle before spinal surgery. There is not available data on the therapeutic effects of orthopedic treatment of spine in type 1b SMA patients. This study evaluated the effectiveness of … [Read more]
Potential of cerebrospinal fluid delivery of an AAV vector to treat SMA patients
Teams from Genethon and The Institute of Myology have demonstrated the efficacy of injecting a gene therapy product into the cerebrospinal fluid (CSF) of a spinal muscular atrophy (SMA) mouse model. Spinal muscular atrophy is related to abnormalities in the SMN1 gene, encoding the motor neuron survival protein, SMN. In SMA, a therapeutic approach involves … [Read more]
Value of quantitative MRI to track DMD progression
This 4‐year longitudinal study was designed to evaluate the clinical usefulness and sensitivity of muscle MRI in detecting fibro‐adipose degeneration in DMD. A total of 26 patients (baseline age: 5-12 years) with genetically proven DMD were longitudinally analyzed with lower limb 3T MRI, force measurements, and functional tests. Semiquantitative (scores) and quantitative MRI (qMRI) analyses … [Read more]
