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| Auteur |
Fanin M
Articles :
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
/ Angelini C ; Nardetto L ; Borsato C ; Padoan R ; Fanin M ; Nascimbeni AC ; Tasca E.
Neurological research, 2010. - 32, 1, p. 41-46
Articles :
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes
/ Fanin M ; Nascimbeni AC ; Aurino S ; Tasca E ; Pegoraro E ; Nigro V ; Angelini C.
Neurology, 2009. - 72, 16, p. 1432-1435
Articles :
Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR
/ Martignago S ; Fanin M ; Albertini E ; Pegoraro E ; Angelini C.
Neuropathology and applied neurobiology, 2009. - 35, 1, p. 103-110
Articles :
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
/ Fanin M ; Nascimbeni AC ; Tasca E ; Angelini C.
European journal of human genetics, 2009. - 17, 5, p. 598-603
Colloques :
Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients (Poster)
/ Trimarco A ; Torella A ; Cuomo A ; Bassi MT ; Fanin M ; Galluzzi G ; Minetti C ; Politano L ; Nigro V.
Neuromuscular disorders, 2008. - 18, 9-10, p. 776
Colloques :
Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in a heterologous cell system expressing beta-, gamma-, and delta-sarcoglycan
/ Sandona D ; Gastaldello S ; Franzoso S ; Fanin M ; Angelini C ; Vidal J ; Basse N ; Reboud-Ravaux M ; Betto R.
2008. - p. 409
Articles :
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency
/ Nascimbeni AC ; Fanin M ; Tasca E ; Angelini C.
Neurology, 2008. - 70, 8, p. 617-626
Articles :
Correlations between clinical severity, genotype and muscle pathology in LGMD2A
/ Fanin M ; Nardetto L ; Nascimbeni AC ; Tasca E ; Spinazzi M ; Padoan R ; Angelini C.
Journal of medical genetics, 2007. - 44, 10, p. 609-614
Articles :
Screening of calpain-3 autolytic activity in LGMD muscle : a functional map of CAPN3 gene mutations
/ Fanin M ; Nascimbeni AC ; Angelini C.
Journal of medical genetics, 2007. - 44, p. 38-43
Articles :
Expression profiling characterization of laminin alpha-2 positive MDC
/ Millino C ; Bellin M ; Fanin M ; Romualdi C ; Pegoraro E ; Angelini C ; Lanfranchi G.
Biochemical and biophysical research communications, 2006. - 350, 2, p. 345-351
Colloques :
Neuronal nitric oxide synthase (nNOS) activity and ultrastructural changes in caveolin-3 deficient muscle cause mechanical irritability(Abstract in 58th Annual Meeting of American Academy of Neurology) / Angelini C ; Fulizio L ; Nascimbeni AC ; Fanin M ; Cennacchi G. Neurology, 2006. - 66, 5, Suppl 2, p. A362
Articles :
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease
/ Fanin M ; Nascimbeni AC ; Fulizio L ; Spinazzi M ; Melacini P ; Angelini C.
American journal of pathology, 2006. - 168, 4, p. 1309-1320
Articles :
Early onset calpainopathy with normal non-functional calpain 3 level
/ Lanzillo R ; Aurino S ; Fanin M ; Aguennoz M ; Vitale F ; Fiorillo C ; Del Giudice E ; Nigro V ; Santoro L.
Developmental medicine and child neurology, 2006. - 48, 4, p. 304-306
Articles :
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
/ Piluso G ; Politano L ; Aurino S ; Fanin M ; Ricci E ; Ventriglia VM ; Belsito A ; Totaro A ; Saccone V ; Topaloglu H ; Nascimbeni AC ; Fulizio L ; Broccolini A ; Canki-Klain N ; Comi LI ; Nigro G ; Angelini C ; Nigro V.
Journal of medical genetics, 2005. - 42, p. 686-693
Articles :
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
/ Cenacchi G ; Fanin M ; De Giorgi LB ; Angelini C.
Journal of clinical pathology, 2005. - 58, 2, p. 190-195
Articles :
Molecular and muscle pathology in a series of caveolinopathy patients
/ Fulizio L ; Chiara Nascimbeni A ; Fanin M ; Piluso G ; Politano L ; Nigro V ; Angelini C.
Human mutation, 2005. - 25, p. 82-89
Articles :
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy
/ Prandini P ; Berardinelli A ; Fanin M ; Morello F ; Zardini E ; Pichiecchio A ; Uggetti C ; Lanzi G ; Angelini C ; Pegoraro E.
Neurology, 2004. - 63, 6, p. 1118-1121
Articles :
Molecular diagnosis in LGMD2A : mutation analysis or protein testing ?
/ Fanin M ; Fulizio L ; Nascimbeni AC ; Spinazzi M ; Piluso G ; Ventriglia VM ; Ruzza G ; Siciliano G ; Trevisan CP ; Politano L ; Nigro V ; Angelini C.
Human mutation, 2004. - 24, 1, p. 52-62
Articles :
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression
/ Fanin M ; Chiara Nascimbeni A ; Fulizio L ; Trevisan CP ; Meznaric-Petrusa M ; Angelini C.
American journal of pathology, 2003. - 163, 5, p. 1929-1936
Articles :
LGMD2 patients risk developing dilated cardiomyopathy
/ Fanin M ; Melacini P ; Boito C ; Pegoraro E ; Angelin C.
Neuromuscular disorders, 2003. - 13, 4, p. 303-309
Articles :
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha2 (LAMA2) deficiency
/ Tezak Z ; Prandini P ; Boscaro M ; Marin A ; Devaney JM ; Marino M ; Fanin M ; Trevisan CP ; Park J ; Tyson W ; Finkel RS ; Garcia C ; Angelini C ; Hoffman EP ; Pegoraro E.
Human mutation, 2003. - 21, 2, p. 103-111
Articles :
Defective assembly of sarcoglycan complex in patients with Beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes
/ Fanin M ; Angelini C.
Neuropathology and applied neurobiology, 2002. - 28, p. 190-199
Articles :
Muscle pathology in dysferlin deficiency
/ Fanin M ; Angelini C.
Neuropathology and applied neurobiology, 2002. - 28, p. 461-470
Articles :
Novel sarcoglycan mutations widen the clinical spectrum of Limb-Girdle muscular dystrophy 2C, 2D, 2E, 2F
/ Angelini CI ; Boito C ; Fanin M ; Siciliano G ; Pegoraro E.
Neurology, 2002. - 58, Suppl 3, p. A169
Articles :
Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy : Molecular and biochemical defects on cardiac and skeletal muscle
/ Melacini P ; Gambino A ; Caforio AL ; Barchitta A ; Valente ML ; Angelini A ; Fanin M ; Thiene G ; Angelini C ; Casarotto D ; Danieli GA ; Dalla Volta S.
Transplantation proceedings, 2001. - 33, 1-2, p. 1596-1599
Articles :
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
/ Fanin M ; Pegoraro E ; Matsuda-Asada C ; Brown RH Jr ; Angelini C.
Neurology, 2001. - 56, p. 660-665
Articles :
Distal Myopathies
/ Angelini C ; Fanin M ; Vlak M ; Padovan R.
Acta myologica, 2000. - XIX, p. 221-225
Articles :
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy
/ Pegoraro E ; Fanin M ; Trevisan CP ; Angelini C ; Hoffman EP.
Neurology, 2000. - 55, 8, p. 1128-1134
Articles :
Could utrophin rescue the myocardium of patients with dystrophin gene mutations ?
/ Fanin M ; Melacini P ; Angelini C ; Danieli GA.
Journal of molecular and cellular cardiology, 1999. - 31, 8, p. 1501-1508
Articles :
Regeneration in sarcoglycanopathies : expression studies of sarcoglycans and other muscle proteins
/ Fanin M ; Angelini C.
Journal of the neurological sciences, 1999. - 165, 2, p. 170-177
Articles :
The clinical spectrum of sarcoglycanopathies
/ Angelini C ; Fanin M ; Freda MP ; Duggan DJ ; Siciliano G ; Hoffman EP.
Neurology, 1999. - 52, p. 176-179
Articles :
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations
/ Melacini P ; Fanin M ; Duggan DJ ; Freda MP ; Berardinelli A ; Danieli GA ; Barchitta A ; Hoffman EP ; Dalla Volta S ; Angelini C.
Muscle and nerve, 1999. - 22, 4, p. 473-479
Articles :
Cardiac transplantation in a Duchenne muscular dystrophy carrier
/ Melacini P ; Fanin M ; Angelini A ; Pegoraro E ; Livi U ; Danieli GA ; Hoffman EP ; Thiene G ; Dalla Volta S ; Angelini C.
Neuromuscular disorders, 1998. - 8, 8, p. 585-590
Articles :
Sarcoglycanopathies are rare disorders : experience with steroid treatments
/ Angelini C ; Fanin M ; Pegora E ; Menegazzo E ; Ruzza GP.
Neuromuscular disorders, 1998. - 8, 3, p.272
Articles :
Laminin alpha-2 muscular dystrophy. Genotype/phenotype studies of 22 patients
/ Pegoraro E ; Marks H ; Garcia CA ; Crawford T ; Mancias P ; Connolly AM ; Fanin M ; Martinello F ; Trevisan CP ; Angelini C ; Stella A ; Munk RL ; Servidei S ; Bonnemann CC ; Bertorini T ; Acsadi G ; Thompson CE ; Gagnon D ; Hoganson G ; Carver V ; Zimmerman RA ; Hoffman EP ; Scavina M.
Neurology, 1998. - 51, p. 101-110
Articles :
Homozygous alpha sarcoglycan mutation in two siblings : one asymptomatic and one steroid responsive mild limb girdle muscular dystrophy patient
/ Angelini C ; Fanin M ; Menegazzo E ; Freda MP ; Duggan DJ ; Hoffman EP.
Muscle and nerve, 1998. - 21, 6, p. 769-775
Articles :
Prognostic factors in mild dystrophinopathies
/ Angelini C ; Fanin M ; Freda MP ; Martinello F ; Miorin M ; Melacini P ; Siciliano G ; Pegoraro E ; Rosa M ; Danieli GA.
Journal of the neurological sciences, 1996. - 142, p. 70-78
Articles :
Enormous dystrophin in a patient with Becker muscular dystrophy
/ Angelini C ; Beggs AH ; Hoffman EP ; Fanin M ; Kunkel LM.
Neurology, 1990. - 40, 5, p. 808-812 |
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