C. Doriguzzi

发表

Interictal conduction slowing in muscle fibers in hypokalemic periodic paralysis

W. Troni, C. Doriguzzi, T. Mongini, 1983, Neurology.

MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.

S. Servidei, G. Silvestri, C. Doriguzzi, 2002, Clinical neuropathology.

A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: Its advantages in muscle fibre typing

D. Schiffer, C. Doriguzzi, T. Mongini, 2004, Histochemistry.

Late onset and very mild course of Xp21 Becker type muscular dystrophy.

R. Mutani, S. Bortolotto, I. Bosone, 2001, Clinical neuropathology.

Atypical Histopathological Changes in Muscle Biopsies from Two Patients with facioscapulohumeral Muscular dystrophy

I. Bosone, C. Doriguzzi, T. Mongini, 2003 .

Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis.

C. Doriguzzi, T. Mongini, A. Bertolotto, 1993, European neurology.

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

C. Doriguzzi, T. Mongini, G. Restagno, 1993, Journal of Neurology.

Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family

C. Doriguzzi, T. Mongini, A. Fubini, 2000, Neurology.

Osteomalacic myopathy in a case of diffuse nodular lipomatosis of the small bowel.

C. Doriguzzi, T. Mongini, R. Coda, 1982, Acta neurologica Belgica.

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

C. Doriguzzi, T. Mongini, G. Restagno, 1994, Neurology.

Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy

C. Doriguzzi, T. Mongini, G. Restagno, 1992, Journal of the Neurological Sciences.

Laminin and fibronectin distribution in normal and pathological human muscle

C. Doriguzzi, T. Mongini, A. Bertolotto, 1983, Journal of the Neurological Sciences.

Epidemiology of Duchenne muscular dystrophy in the province of Turin

D. Schiffer, C. Doriguzzi, T. Mongini, 2006, The Italian Journal of Neurological Sciences.

A study to compare oral sumatriptan with oral aspirin plus oral metoclopramide in the acute treatment of migraine. The Oral Sumatriptan and Aspirin plus Metoclopramide Comparative Study Group.

J. Askenasy, N. Bresolin, J. Bogousslavsky, 1992, European neurology.

Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.

N. Bresolin, C. Doriguzzi, T. Mongini, 1992, European neurology.

Neuropathy secondary to vitamin E deficiency in acquired intestinal malabsorption

L. Orsi, W. Troni, C. Doriguzzi, 1988, The Italian Journal of Neurological Sciences.

Cytochromec oxidase and coenzyme Q in neuromuscular diseases: a histochemical study

D. Schiffer, C. Doriguzzi, T. Mongini, 2004, Acta Neuropathologica.

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

C. Doriguzzi, T. Mongini, G. Restagno, 1995, Prenatal diagnosis.

Myoglobinuria: presentation of personal cases and review of the literature

C. Doriguzzi, T. Mongini, A. Bertolotto, 1981, The Italian Journal of Neurological Sciences.

Myoglobinuria and carnitine palmityl transferase deficiency in father and son

D. Schiffer, C. Doriguzzi, T. Mongini, 1991, Journal of Neurology.

Isolated accessory nerve palsy. Case report

W. Troni, C. Doriguzzi, L. Palmucci, 1982, The Italian Journal of Neurological Sciences.

Systematic use of dystrophin testing in muscle biopsies: results in 201 cases

C. Doriguzzi, T. Mongini, G. Restagno, 1997, European journal of clinical investigation.

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

C. Doriguzzi, M. S. Angelis, L. Palmucci, 1991 .

Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.

D. Schiffer, C. Doriguzzi, T. Mongini, 1991, Journal of neurology, neurosurgery, and psychiatry.

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

C. Doriguzzi, U. Linz, K. Keating, 1993, Nature Genetics.

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial

N. Bresolin, C. Angelini, G. Scarlato, 1990, Journal of the Neurological Sciences.

Fisher syndrome. Presentation of a clinical case.

D. Schiffer, C. Doriguzzi, L. Palmucci, 1978, Acta neurologica.

Alpha-Sarcoglycan Deficiency Featuring Exercise Intolerance and Myoglobinuria

E. Hoffman, I. Bosone, C. Doriguzzi, 2002, Neuropediatrics.

Free cytoplasmic Ca++ at rest and after cholinergic stimulus is increased in cultured muscle cells from Duchenne muscular dystrophy patients

D. Schiffer, F. Bussolino, C. Doriguzzi, 1988, Neurology.

Quantitative analysis of quadriceps muscle biopsy Results in 7 definite and 45 possible carriers of duchenne muscular dystrophy

D. Schiffer, C. Doriguzzi, T. Mongini, 1986, Journal of the Neurological Sciences.

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

R. Piva, A. Migheli, C. Doriguzzi, 1997, Neurogenetics.

Unusual Clinical Expression of Dystrophinopathy in a Female, Mimicking a Congenital Myopathy

C. Doriguzzi, T. Mongini, L. Palmucci, 1999, European Neurology.

Variable histological expression of dystrophinopathy in two females

E. Hoffman, C. Doriguzzi, T. Mongini, 1999, Acta Neuropathologica.

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

C. Doriguzzi, T. Mongini, G. Restagno, 1992, Neuroscience Letters.

Quantitative and qualitative alterations of dystrophin are expressed in muscle cell cultures of Xp21 muscular dystrophy patients (Duchenne and Becker type)

C. Doriguzzi, T. Mongini, L. Palmucci, 1996, European journal of clinical investigation.

Myopathy with tubular aggregates in a patient adrenalectomized for cushing's syndrome

C. Doriguzzi, L. Palmucci, A. Anzil, 2004, Journal of Neurology.

Quantitative analysis of quadriceps muscle biopsy Results in 30 healthy females

D. Schiffer, C. Doriguzzi, T. Mongini, 1984, Journal of the Neurological Sciences.

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency

P. Tonali, S. Servidei, G. Silvestri, 2000, Neurology.

Multicenter trial with ubidecarenone: treatment of 44 patients with mitochondrial myopathies.

N. Bresolin, G. Comi, C. Angelini, 1991, Revue neurologique.

Clinical spectrum of McArdle disease: three cases with unusual expression.

C. Doriguzzi, T. Mongini, L. Palmucci, 1993, European neurology.

Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency.

N. Bresolin, G. Comi, C. Doriguzzi, 1989, Journal of neurology, neurosurgery, and psychiatry.

Myopathy in a patient with chromosome 22q11 deletion.

R. Mutani, A. Brusco, S. Bortolotto, 2001, Neuropediatrics.

Early sarcolemmal dysfunction in skeletal muscle amyloidosis

W. Troni, C. Doriguzzi, T. Mongini, 2004, Journal of Neurology.

Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene

C. Doriguzzi, A. Mauro, C. Valentini, 2008, Journal of the Neurological Sciences.

Body building and rhabdomyolysis.

C. Doriguzzi, T. Mongini, L. Palmucci, 1990, Journal of neurology, neurosurgery, and psychiatry.

Body building and myoglobinuria: report of three cases

C. Doriguzzi, T. Mongini, L. Palmucci, 1988, British medical journal.

Short report Endocrine involvement inmitochondrial encephalomyopathy withpartial cytochrome coxidase deficiency

N. Bresolin, G. Comi, C. Doriguzzi, 1989 .