List of works by Alessandro Prelle

A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.

scientific article published in November 1995

A novel mitochondrial tRNA Ile point mutation in chronic progressive external ophthalmoplegia

scientific article published in October 1998

Absence of angiogenic genes modification in Italian ALS patients

scientific article published in February 2008

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

scientific article

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

scientific article

Anionic phospholipids calcium binding sites in Duchenne and murine X-linked muscular dystrophy

scientific article published on 01 May 1994

Aphasic and visual aura with increased vasogenic leakage: an atypical migrainosus status.

scientific article published in July 2009

Appearance and localization of dystrophin in normal human fetal muscle

scientific article published in January 1991

Assessment of white matter tract damage in patients with amyotrophic lateral sclerosis: a diffusion tensor MR imaging tractography study.

scientific article published on 15 April 2010

Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle

scientific article published in September 1996

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis

scientific article (publication date: August 2001)

Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile.

scientific article published on May 1994

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

scientific article

Clinical factors associated with statins prescription in acute ischemic stroke patients: findings from the Lombardia Stroke Registry

scientific article

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

scientific article published in February 2008

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

scientific article published in January 1992

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

scientific journal article

Cytochrome c oxidase during human fetal development.

scientific article

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

scientific article published in January 1998

DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients

scientific article published on 12 February 2008

Desmin and vimentin as markers of regeneration in muscle diseases

scientific article published on January 1, 1992

Divergent brain network connectivity in amyotrophic lateral sclerosis

scientific article published on 18 May 2012

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family

scientific article published in November 1995

Dystrophin deficiency in a case of congenital myopathy

scientific article published on 01 February 1992

Early vacuolization and mitochondrial damage in motor neurons of FALS mice are not associated with apoptosis or with changes in cytochrome oxidase histochemical reactivity.

scientific article published in October 2001

Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C

scientific article published on 01 March 1995

Expression and localization of myotonic dystrophy protein kinase in human skeletal muscle cells determined with a novel antibody: possible role of the protein in cytoskeleton rearrangements during differentiation

scientific article published on 01 September 2005

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

scientific article

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.

scientific article published on 13 June 2006

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

scientific article published in 1995

Guillain-Barré syndrome after rtPA therapy for acute stroke

scientific article published on 08 May 2010

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study

scientific article published in October 2003

High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm.

scientific article published on November 2006

IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis.

scientific article

Impaired expression of insulin-like growth factor-1 system in skeletal muscle of amyotrophic lateral sclerosis patients.

scientific article published in February 2012

Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice

scientific article published on 08 January 2007

Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

scientific article published in May 2009

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

scientific article published on 29 July 2002

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

scientific article

MRI predictors of long-term evolution in amyotrophic lateral sclerosis.

scientific article published on November 2010

Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.

scientific article published in January 1994

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

scientific article published on July 2010

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

scientific article (publication date: December 2003)

Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis

scientific article published in July 1993

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

scientific article published in May 1994

Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases

scientific article published in 1994

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

scientific article published on 8 April 2009

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

scientific article published in January 2011

New mutations in TK2 gene associated with mitochondrial DNA depletion.

scientific article published in March 2006

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

scientific article

OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy

scientific article published on 01 January 1995

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on March 2017

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

scientific article published on 01 May 2001

Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

scientific article published on 01 June 1987

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.

scientific article

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

scientific article published in February 1995

Sarcoglycan deficiency in a large Italian population of myopathic patients

scientific article published in November 1998

Sensorimotor Functional Connectivity Changes in Amyotrophic Lateral Sclerosis

scientific article published on 02 March 2011

Severe polyneuropathy in a patient with Churg-Strauss syndrome

scientific article published on 01 June 2000

Skin-derived stem cells transplanted into resorbable guides provide functional nerve regeneration after sciatic nerve resection.

scientific article published on March 2007

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.

scientific article published on 10 May 2011

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

scientific article published on 19 February 2009

The cortical signature of amyotrophic lateral sclerosis

scientific article

The topography of brain microstructural damage in amyotrophic lateral sclerosis assessed using diffusion tensor MR imaging.

scientific article published on 16 June 2011

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

scientific article published on 01 July 1990

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

scientific article published in January 2003

Utrophin expression during human fetal development

scientific article published in October 1995

Voxel-based morphometry study of brain volumetry and diffusivity in amyotrophic lateral sclerosis patients with mild disability.

scientific article published in December 2007

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