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Sondaggi

Qual è la malattia neuromuscolare più diffusa?
 

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Messaggio
Notizie e novità dal fronte della ricerca

Notizie dal mondo della ricerca sulle malattie neuromuscolari. Distrofie di Duchenne, Miopatie Metaboliche, Mipatie mitocondriali, Miopatie Infiammatorie....e molto altro!





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Giovedì 12 Maggio 2016 10:58

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

 

Abstract


Based on the 7-year experience of the Italian Clinical Network for FSHD, we revised the FSHD clinical form to describe, in a harmonized manner, the phenotypic spectrum observed in FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The inter-rater reproducibility of the CCEF was assessed between two examiners using kappa statistics by evaluating 56 subjects carrying the molecular marker used for FSHD diagnosis. The CCEF classifies: (1) subjects presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1-A3), (2) subjects with muscle weakness limited to scapular girdle or facial muscles (category B subcategories B1, B2), (3) asymptomatic/healthy subjects (category C, subcategories C1, C2), (4) subjects with myopathic phenotype presenting clinical features not consistent with FSHD canonical phenotype (D, subcategories D1, D2). The inter-rater reliability study showed an excellent concordance of the final four CCEF categories with a κ equal to 0.90; 95 % CI (0.71; 0.97). Absolute agreement was observed for categories C and D, an excellent agreement for categories A [κ = 0.88; 95 % CI (0.75; 1.00)], and a good agreement for categories B [κ = 0.79; 95 % CI (0.57; 1.00)]. The CCEF supports the harmonized phenotypic classification of patients and families. The categories outlined by the CCEF may assist diagnosis, genetic counseling and natural history studies. Furthermore, the CCEF categories could support selection of patients in randomized clinical trials. This precise categorization might also promote the search of genetic factor(s) contributing to the phenotypic spectrum of disease.

 

Ricci G1,2, Ruggiero L3, Vercelli L4, Sera F5, Nikolic A1, Govi M1, Mele F1, Daolio J1, Angelini C6, Antonini G7, Berardinelli A8, Bucci E7, Cao M9, D'Amico MC10, D'Angelo G11, Di Muzio A10, Filosto M12, Maggi L13, Moggio M14, Mongini T4, Morandi L13, Pegoraro E9, Rodolico C15, Santoro L3, Siciliano G2, Tomelleri G16, Villa L14, Tupler R17,18.
Author information

  1. Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  2. Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
  3. Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
  4. Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin, Italy.
  5. MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, London, UK.
  6. IRCCS San Camillo, Venice, Italy.
  7. Department of Neuroscience, Mental Health and Sensory Organs, S. Andrea Hospital, University of Rome "Sapienza", Rome, Italy.
  8. Unit of Child Neurology and Psychiatry, IRCCS "C. Mondino" Foundation, Pavia, Italy.
  9. Department of Neurosciences, University of Padua, Padua, Italy.
  10. Center for Neuromuscular Disease, CeSI, University "G. D'Annunzio", Chieti, Italy.
  11. Department of Neurorehabilitation, IRCCS Institute Eugenio Medea, Bosisio Parini, Italy.
  12. Neurology Clinic, ''Spedali Civili'' Hospital, Brescia, Italy.
  13. IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
  14. Neuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan, Milan, Italy.
  15. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  16. Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona, Italy.
  17. Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Questo indirizzo e-mail è protetto dallo spam bot. Abilita Javascript per vederlo. .
  18. Department of Molecular Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, USA. Questo indirizzo e-mail è protetto dallo spam bot. Abilita Javascript per vederlo. .
Ultimo aggiornamento Lunedì 18 Luglio 2016 09:42
 
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Mercoledì 08 Luglio 2015 11:32

MD recruitment" al Pasteur 2 Hospital, University Hospital of Nice, France.

The Department of “Peripheral Nervous System, Muscle and ALS” recruits a Neurologist (Hospital Practitioner) from the 1st of November 2015 at new Pasteur 2 Hospital, University Hospital of Nice, France. This department has been approved as “Reference Centre for neuromuscular diseases” and “Reference Centre for ALS”. These centres are part of National networks for rare diseases (FILNEMUS, FILSLA).

With more than 2000 patients followed in our centre, we are particularly involved in diagnosis and care of patients affected by rare neuromuscular diseases (myopathies, myasthenia and peripheral neuropathies) and ALS. This activity is organized in consultations, day and week hospitalisations. It puts at disposal an area dedicated to electrophysiology and means necessary for the realization and analysis of muscle and nerve biopsies. In this context, we develop clinical and fundamental research projects, in collaboration with IRCAN of University of Nice-Sophia Antipolis - faculty of Medicine, INSERM U1081 - CNRS UMR 7284 and INRIA. We also are involved in therapeutic trial with industrial partners.

Ultimo aggiornamento Mercoledì 08 Luglio 2015 11:46
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Mercoledì 27 Maggio 2015 10:18

Vaccination recommendations for patients with neuromuscular disease.

Ultimo aggiornamento Mercoledì 27 Maggio 2015 11:05
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Mercoledì 27 Maggio 2015 10:13

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group.
J Neurol Neurosurg Psychiatry. 2015 Mar 17. pii: jnnp-2014-310164. doi: 10.1136/jnnp-2014-310164

Ultimo aggiornamento Mercoledì 27 Maggio 2015 11:07
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Mercoledì 27 Maggio 2015 10:10

Redefining phenotypes associated with mitochondrial DNA single deletion.

Author information

  • 1Neurological Clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy, Questo indirizzo e-mail è protetto dallo spam bot. Abilita Javascript per vederlo. .
Ultimo aggiornamento Mercoledì 27 Maggio 2015 11:07
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Pubblicazioni Recenti PDF Stampa E-mail
Giovedì 27 Dicembre 2012 07:54

Sci Transl Med 19 December 2012:  Vol. 4, Issue 165, p. 165ra162

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy


Stefania Corti Monica Nizzardo, Chiara Simone, Marianna Falcone, Martina Nardini, Dario Ronchi, Chiara Donadoni, Sabrina Salani, Giulietta Riboldi, Francesca Magri, Giorgia Menozzi, Clara Bonaglia, IRCCS E. Medea, Federica Rizzo, Nereo Bresolin, Giacomo P, Comi  
Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

Ultimo aggiornamento Giovedì 27 Dicembre 2012 08:03
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11° CONGRESSO NAZIONALE ASSOCIAZIONE ITALIANA DI MIOLOGIA PDF Stampa E-mail

26-28 maggio 2011

Santa Margherita di Pula (CA) – Hotel Resort Flamingo

Il programma definitivo

Con la registrazione dei partecipanti e l'apertura del Congresso con il saluto delle Autorità si apre alle ore 14 di giovedì 26 maggio 2011, l'11° Congresso Nazionale organizzato dall'associazione italiana di Miologia.

Ultimo aggiornamento Venerdì 20 Maggio 2011 13:09
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