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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

Human molecular genetics, 2001-12, Vol.10 (25), p.2879-2887

2001

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Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

European neurology, 2006-01, Vol.56 (1), p.1-5

2006

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Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

Audiology & neurotology, 2008-01, Vol.13 (1), p.1-6

2008

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SERCAI and calsequestrin storage myopathy : a new surplus protein myopathy

Brain (London, England : 1878), 2006-08, Vol.129, p.2085-2092

2006

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CHINESE RED RICE DEPLETES MUSCLE COENZYME Q10 AND MAINTAINS MUSCLE DAMAGE AFTER DISCONTINUATION OF STATIN TREATMENT

Journal of the American Geriatrics Society (JAGS), 2006-04, Vol.54 (4), p.718-720

2006

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SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

Brain (London, England : 1878), 2006-08, Vol.129 (8), p.2085-2092

2006

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Novel CLCN1 mutations with unique clinical and electrophysiological consequences

Brain (London, England : 1878), 2002-11, Vol.125 (11), p.2392-2407

2002

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Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy

Journal of the neurological sciences, 1992-09, Vol.111 (2), p.218-221

1992

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CHINESE RED RICE DEPLETES MUSCLE COENZYME Q 10 AND MAINTAINS MUSCLE DAMAGE AFTER DISCONTINUATION OF STATIN TREATMENT

Journal of the American Geriatrics Society (JAGS), 2006-04, Vol.54 (4), p.718-720

2006

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Dai Turinetti di Priero ai Ferrero d'Ormea: vicende familiari e architettoniche di un palazzo torinese tra Sei e Settecento

Arte lombarda, 2004-01 (141 (2)), p.63-68

Quaglino, Laura Palmucci

2004

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Myelin-Associated Glycoprotein is Altered in a Familial Late-Onset Orthochromatic Leukodystrophy

Brain pathology (Zurich, Switzerland), 2005-04, Vol.15 (2), p.116-123

2005

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Glycogen Storage Disease Type II Diagnosed in a 74-Year-Old Woman

Journal of the American Geriatrics Society (JAGS), 2004-06, Vol.52 (6), p.1034-1035

2004

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Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease

Neurogenetics, 1997-11, Vol.1 (2), p.81-87

1997

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A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene

Human mutation, 2000-08, Vol.16 (2), p.180-180

2000

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Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy

Journal of neurology, 1993-05, Vol.240 (5), p.269-271

1993

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Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene

Neurology, 1994-03, Vol.44 (3 Pt 1), p.541

1994

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Imprenditoria di Stato e architettura. La manifattura dei tabacchi di Torino al «Regio Parco

Arte lombarda, 1993-01 (105/107 (2-4)), p.222-227

1993

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Centronuclear myopathy: clinical, morphological and genetic characters a review of 288 cases

Journal of the Neurological Sciences, 1991-05, Vol.103 (1), p.2-9

1991

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Carrier detection of duchenne muscular dystrophy through analysis of dna from deciduous teeth of a dead affected child

Prenatal diagnosis, 1995-07, Vol.15 (7), p.672-674

1995

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Immunohistochemical localization of chondroitin sulfate in normal and pathological human muscle

Journal of the neurological sciences, 1986-05, Vol.73 (3), p.233-244

1986

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Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy

Neuroscience letters, 1992-11, Vol.147 (1), p.37-40

1992

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Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis

European neurology, 1993, Vol.33 (6), p.454

1993

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Chondroitin, chondroitin 6-sulphate, chondroitin 4-sulphate and dermatan sulphate proteoglycans in normal and pathological human muscle

Journal of the neurological sciences, 1987-11, Vol.81 (2), p.247-259

1987

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Il patrimonio industriale come bene culturale : una "via italiana" all'archeologia industriale

Il patrimonio architettonico e ambientale : scritti per Micaela Viglino Davico, 2007, p.110-113

2007

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A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

SERCAI and calsequestrin storage myopathy : a new surplus protein myopathy

CHINESE RED RICE DEPLETES MUSCLE COENZYME Q10 AND MAINTAINS MUSCLE DAMAGE AFTER DISCONTINUATION OF STATIN TREATMENT

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy

CHINESE RED RICE DEPLETES MUSCLE COENZYME Q 10 AND MAINTAINS MUSCLE DAMAGE AFTER DISCONTINUATION OF STATIN TREATMENT

Dai Turinetti di Priero ai Ferrero d'Ormea: vicende familiari e architettoniche di un palazzo torinese tra Sei e Settecento

Myelin-Associated Glycoprotein is Altered in a Familial Late-Onset Orthochromatic Leukodystrophy

Glycogen Storage Disease Type II Diagnosed in a 74-Year-Old Woman

Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease

A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene

Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy

Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene

Imprenditoria di Stato e architettura. La manifattura dei tabacchi di Torino al «Regio Parco

Centronuclear myopathy: clinical, morphological and genetic characters a review of 288 cases

Carrier detection of duchenne muscular dystrophy through analysis of dna from deciduous teeth of a dead affected child

Immunohistochemical localization of chondroitin sulfate in normal and pathological human muscle

Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy

Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis

Chondroitin, chondroitin 6-sulphate, chondroitin 4-sulphate and dermatan sulphate proteoglycans in normal and pathological human muscle

Il patrimonio industriale come bene culturale : una "via italiana" all'archeologia industriale

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