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Titel : Accreditatie =Accreditatie
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ITALI╦

LOMBARDIA
MILANO

Molecular and immunological diagnosis of muscular dystrophy, Duchenne and Becker type (DMD gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Immunologie

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of Steinert myotonic dystrophy (DMPK gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of Thomsen and Becker disease (CLCN1 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica
Doel : Gerichte mutatieanalyse
Techniek(en) : Sanger-sequencing

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of hypokalemic periodic paralysis (CACNA1S e SCN4A genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of central core disease (RYR1 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of malignant hyperthermia susceptibility (RYR1 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose, Risicoanalyse
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of congenital myasthenic disorder (CHRNA, CHRNE, RAPSYN genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of paramyotonia congenita (SCN4A gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of proximal myotonic myopathy (CNBP gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular and immunological diagnosis of congenital muscular dystrophies due to altered glycosylation of alpha-dystroglycan (POMT1, POMT2, POMGNT1, FKRP, FKTN, LARGE genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Immunologie

ITALI╦

LOMBARDIA
MILANO

Molecular and immunological of congenital muscular dystrophy, type 1A (LAMA2 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Immunologie

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of distal myopathy, Nonaka type (GNE gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular and immunological diagnosis of autosomal recessive limb-girdle muscolar dystrophy (CAPN3, DYSF, SGCG, SGCA, SGCB, FKRP, TTN, POMT1, ANO5, FKTN, POMT2, POMGNT1 genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Immunologie

ITALI╦

LOMBARDIA
MILANO

Molecular and immunological diagnosis of autosomal dominant limb-girdle muscular dystrophy, limb-girdle type 1A, 1B, 1C (CAV3, LMNA, MYOT genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Immunologie

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of nemalinic myopathy (ACTA1 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of autosomal dominant centronuclear myopathy (DNM2 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of X linked centronuclear myopathy (MTM1 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of multiminicore myopathy (SEPN1 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LOMBARDIA
MILANO

Molecular diagnosis of congenital fiber-type disproportion myopathy (SEPN1, ACTA1 genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica