List of works - Tiziana Mongini

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

scientific article published in November 2002

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

scientific article published in August 2003

Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003

Motor function-muscle strength relationship in spinal muscular atrophy

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

scientific journal article

Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures

scientific article

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

scientific article published on 01 July 2006

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

scientific article published on June 2012

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia

scientific article

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

scientific article

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

scientific article published on 27 June 2006

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

scientific article published on November 30, 2011

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

scientific article

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

scientific article

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

scientific article published on 17 October 2012

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

scientific article published on 19 May 2006

Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment

scientific article (publication date: April 2006)

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy

scientific article published in April 2005

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis

scientific article published on December 5, 2012

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial

scientific article

Acute neuromuscular failure related to long-term botulinum toxin therapy

scientific article published in April 2004

Undiagnosed myopathy before surgery and safe anaesthesia table

scientific article published on October 2013

Sensory ataxic neuropathy and esophageal achalasia in a patient with Sjogren's syndrome

scientific article published on 01 April 2007

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

article

Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy

scientific article published on 14 February 2018

The indistinct borders between psychological motivation, self-esteem, stress response and pain underline this assumption

scientific article published in December 2012

Round Table: Discussion with families and lay associations

scientific article published on 11 November 2015

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry

scientific article published in December 2017

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

article

Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness.

scientific article published on 29 May 2013

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

scientific article published on 8 February 2017

List of works by Tiziana Mongini

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

Phenotype modulators in myophosphorylase deficiency

Motor function-muscle strength relationship in spinal muscular atrophy

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

Redefining phenotypes associated with mitochondrial DNA single deletion

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Myoclonus in mitochondrial disorders

Prevalence of congenital muscular dystrophy in Italy: a population study

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

SERCA1 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

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial

Acute neuromuscular failure related to long-term botulinum toxin therapy

Undiagnosed myopathy before surgery and safe anaesthesia table

Sensory ataxic neuropathy and esophageal achalasia in a patient with Sjogren's syndrome

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

Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy

The indistinct borders between psychological motivation, self-esteem, stress response and pain underline this assumption

Round Table: Discussion with families and lay associations

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness.

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].