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List of works by Enzo Ricci

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alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy

scientific article published on 10 December 2004
Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article
Mobility assessment of patients with facioscapulohumeral dystrophy

scientific article published in December 2007
Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases

scientific article published on 01 October 1997
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.

scientific article
Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

scientific article published on June 2010
Control of the upper body movements during level walking in patients with facioscapulohumeral dystrophy

scientific article published in January 2010
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

scientific article published on 23 January 2007
Congenital muscular dystrophies with cognitive impairment. A population study.

scientific article published in September 2010
Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

scientific article published on 01 June 1994
Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior

scientific article published on 22 December 2010
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

scientific article published on 01 July 2010
Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

scientific article published on 5 June 2009
Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

scientific article published on 01 May 1999
Calf muscle involvement in Becker muscular dystrophy: when size does not matter

scientific article published on 22 October 2014
Autosomal recessive hypermyelinating neuropathy

scientific article published on 01 January 1994
Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

scientific article published on 01 March 1993
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012
Neurogenic pulmonary edema: a presenting symptom in multiple sclerosis

scientific article published on 01 June 1992
Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.

scientific article published on 9 May 2009
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

scientific article published on 17 July 2015
Pain and the alpha-sleep anomaly: a mechanism of sleep disruption in facioscapulohumeral muscular dystrophy

scientific article published on 6 February 2013
Skeletal muscle apoptosis is not increased in gastric cancer patients with mild-moderate weight loss.

scientific article
Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy.

scientific article
Coeliac disease presenting with acute disseminated encephalomyelitis

scientific article published on 01 February 2006
Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments

scientific article published on 01 January 1993
Functional involvement of central nervous system in mitochondrial disorders

scientific article published on 01 June 1997
Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study

scientific article published on 18 January 2006
Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.

scientific article published on 6 October 2009
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

scientific article published on 26 May 2010
Mouth leaks may complicate positive airway pressure treatment of OSAS in facioscapulohumeral muscular dystrophy

scientific article published on 12 February 2008
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

scientific article
Teaching video neuroimages: complicated scapular winging

scientific article published in September 2013
Ultrasound tissue characterization does not differentiate genotype, but indexes ejection fraction deterioration in becker muscular dystrophy

scientific article
An Immunological Analysis of Dystroglycan Subunits: Lessons Learned from a Small Cohort of Non-Congenital Dystrophic Patients

scientific article published on October 20, 2011
The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription

scientific article published on 01 April 1999
Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

scientific article published on 02 October 2010
Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas

scientific article published on 20 February 2010

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