NEUROMUSCULAR BANK OF TISSUES AND DNA SAMPLES
- 3 Anni 2003/2006
- 93.000€ Totale Fondi
La nostra banca raccoglie campioni di DNA, tessuto muscolare, scheletrico ed altri tessuti da pazienti con una grande varietà di malattie neuromuscolari.
A tutt’oggi oltre 600 biopsie sono state raccolte nella banca ed ogni anno circa 200 campioni sono distribuiti agli utilizzatori e ricercatori Telethon ed a numerosi scienziati collaboranti su progetti di ricerca in tutto il mondo. I risultati ottenuti dalla nostra banca di tessuti neuromuscolari sono dimostrati dal numero di campioni collezionati ogni anno (400 per anno), dal numero di pubblicazioni scientifiche prodotte e dal numero di collaboratori ed utilizzatori. In aggiunta numerosi pazienti ed i loro familiari hanno ricevuto una diagnosi molecolare aggiornata e quindi molte famiglie hanno potuto accedere ad una diagnosi prenatale corretta. Ulteriori benefici sono da prevedersi nel futuro dagli sviluppi patofisiologici nel campo neuromuscolare e dalle scoperte diagnostiche e terapeutiche, che potranno avvalersi della disponibilità dei tessuti.
Pubblicazioni Scientifiche
- 2008 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Sphingomonas paucimobilis associated with localised calf myositis
- 2005 BRAIN
Decorin and biglycan expression is differentially altered in several muscular dystrophies
- 2005 NEUROLOGICAL SCIENCES
Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1
- 2005 NEUROMUSCULAR DISORDERS
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
- 2004 NEUROLOGY
Correlating phenotype and genotype in the periodic paralyses
- 2003 MUSCLE & NERVE
Clinical and genetic analysis of CMT1B in a Nigerian family
- 2005 NEUROMUSCULAR DISORDERS
Co-segregation of LMNA and PMP22 gene mutations in the same family
- 2004 HUMAN MUTATION
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
- 2006 FASEB JOURNAL
Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1
- 2003 AMERICAN JOURNAL OF PATHOLOGY
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression
- 2005 JOURNAL OF CLINICAL PATHOLOGY
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
- 2003 JOURNAL OF MEDICAL GENETICS
Novel sarcoglycan gene mutations in a large cohort of Italian patients
- 2005 JOURNAL OF MEDICAL GENETICS
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
- 2003 ANNALS OF NEUROLOGY
Phenotype modulators in myophosphorylase deficiency
- 2005 NEUROMUSCULAR DISORDERS
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
- 2004 EUROPEAN JOURNAL OF NEUROLOGY
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy
- 2005 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
- 2006 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy
- 2005 ARCHIVES OF NEUROLOGY
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I
- 2004 NEUROLOGY
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy
- 2007 NEUROMUSCULAR DISORDERS
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
- 2005 HUMAN MUTATION
Molecular and muscle pathology in a series of caveolinopathy patients
