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List of works by Rossella Tupler

A 5-year clinical follow-up study from the Italian National Registry for FSHD

scientific article published on 19 August 2020

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1 ⬇️

scientific article published on April 1, 1992

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

scientific article published in May 1993

A locus for migraine without aura maps on chromosome 14q21.2-q22.3.

scientific article published on 09 December 2002

A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene

scientific article

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

scientific article published on 01 August 2010

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

scientific article published on March 1997

Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)

scientific article published on 04 December 2013

Altered gene silencing and human diseases

scientific article

An analysis of Xq deletions

An integrated approach in a case of facioscapulohumeral dystrophy

scientific article

Comment on 'Huntington's disease presenting as ALS'.

scientific article published in August 2010

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach

scientific article published in 2022

D.I.2 Facioscapulohumeral muscular dystrophy: Transition from a mendelian trait to a complex genetic disease?

D.P.1.04 Size and number of D4Z4 alleles play a role in FSHD phenotype

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts

scientific article

Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy

scientific article published on 13 August 2009

Expressing the human genome

scientific article published in Nature

FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).

scientific article

Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: A Molecular Genetics-based Epidemiological and Genotype–Phenotype Study

article

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

scientific article published on 27 June 2006

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

scientific article published on 22 August 2007

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

scientific article

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

scientific article published on 03 January 2012

G.P.13.04 Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

scientific article published in September 1990

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

scientific article

Inappropriate Gene Activation in FSHD

scientific article (publication date: August 2002)

Interphase cytogenetics of the ICF syndrome

scientific article published on 01 July 1992

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

scientific article published on 10 April 2020

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

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

M.P.1.13 Novel mitochondrial tRNA LEU(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

Molecular analysis of a human Y;1 translocation in an azoospermic male.

scientific article published on January 1994

Molecular basis of facioscapulohumeral muscular dystrophy

scientific article published on March 2004

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

scientific article

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

scientific article published in January 2011

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

scientific article published on 14 March 2008

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome ⬇️

scientific article published on January 1, 1992

Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy

scientific article published on October 1999

RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).

scientific article

Response

Ring chromosome 9 with a 9p22.3-p24.3 duplication

scientific article published on October 1999

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

scientific article

Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy

T.P.35 FHL1 is beneficial in reducing muscle wasting in dystrophic FRG1 mice

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

scientific article published in 2021

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

scientific article

Transcriptional derepression as a cause of genetic diseases

scientific article

When enough is enough: genetic diseases associated with transcriptional derepression

scientific article published on June 2004

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