Search filters

List of works by Tiziana Mongini

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

scientific article

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

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

scientific article

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

article

Acute neuromuscular failure related to long-term botulinum toxin therapy

scientific article published in April 2004

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

scientific article published on December 5, 2012

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

scientific article (publication date: April 2006)

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

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

scientific article published on November 30, 2011

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

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

scientific article published on 29 May 2013

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

scientific article published in December 2017

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

scientific article published on 27 June 2006

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

scientific article

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

scientific article

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

scientific journal article

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

scientific article

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

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

article

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

scientific article published on 01 July 2006

Motor function-muscle strength relationship in spinal muscular atrophy

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

scientific article published on 14 February 2018

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

scientific article published in April 2005

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

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

scientific article published on June 2012

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

scientific article published in November 2002

Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003

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

scientific article published in May 2013

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

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

scientific article

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

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

scientific article published in August 2003

Round Table: Discussion with families and lay associations.

scientific article published on 11 November 2015

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

scientific article published on 19 May 2006

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

scientific article

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

scientific article published on 01 April 2007

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

scientific article published in December 2012

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

scientific article

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

scientific article

Undiagnosed myopathy before surgery and safe anaesthesia table

scientific article published on October 2013

Paulina is supported by:

About Paulina

Help