U. Hladnik

发表

Quantitative Evaluation of the Clinical Effects of S-Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients

L. Salmaso, W. Nyhan, D. Dolcetta, 2013, Nucleosides, nucleotides & nucleic acids.

Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.

W. Nyhan, E. Fortunati, L. Fairbanks, 2010, Mutation research.

Specific treatment of Prader–Willi syndrome through cyclical rehabilitation programmes

D. Dolcetta, P. Parmigiani, Roberta Bernardelle, 2011, Disability and rehabilitation.

P. Gasparini, T. Nutile, M. Ciullo, 2009, International journal of audiology.

Nuclear GSK‐3β segregation in desmoid‐type fibromatosis

M. Montesco, C. Rossi, D. Segat, 2013, Histopathology.

Atypical arrhythmic complications in familial hypokalemic periodic paralysis.

E. Maduli, A. Perucca, Fabiana Signorotti, 2009, Journal of cardiovascular medicine.

Clinical and Molecular Characterization of Prader-Willi Syndrome

G. Sanjeeva, P. Raghupathy, M. Bhat, 2017, The Indian Journal of Pediatrics.

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients

A. Salvatoni, A. Pilotta, A. Crinò, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.

F. Locatelli, C. Agostoni, F. Corona, 2014, Rheumatology.

Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.

G. Invernici, E. Parati, F. Acerbi, 2010, Human molecular genetics.

Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.

Paola de Gemmis, Daniela Galla, U. Hladnik, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The Wnt/β-catenin pathway in human fibrotic-like diseases and its eligibility as a therapeutic target

C. Rossi, M. Enzo, D. Segat, 2015, Molecular and Cellular Therapies.

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families

M. Enzo, D. Segat, Paola de Gemmis, 2017, Metabolic Brain Disease.

An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene

D. Dolcetta, Paola de Gemmis, Daniela Galla, 2013, Journal of Molecular Neuroscience.

Variable expression of HPRT deficiency in 5 members of a family with the same mutation.

W. Nyhan, M. Bertelli, U. Hladnik, 2008, Archives of neurology.

Growth rate and myofibroblast differentiation of desmoid fibroblast-like cells are modulated by TGF-β signaling

C. Rossi, M. Enzo, D. Segat, 2018, Histochemistry and Cell Biology.

A novel ABCC6 variant causative of pseudoxanthoma elasticum

Rossana Tallerico, M. Enzo, S. Nisticò, 2019, Human Genome Variation.

Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis

A. Amoroso, M. Boniotto, S. Crovella, 2002, Clinical and Experimental Medicine.

New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy

E. Giustina, C. Fusco, A. Russo, 2013, Journal of child neurology.

A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo Frameshift FOXC2 Mutation

P. Gasparini, L. Lepore, A. Fabretto, 2010, Ophthalmic genetics.

Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations

G. Capasso, P. Gasparini, S. Ulivi, 2008, Amino Acids.

An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene

D. Dolcetta, Paola de Gemmis, Daniela Galla, 2013, Journal of Molecular Neuroscience.

Growth rate and myofibroblast differentiation of desmoid fibroblast-like cells are modulated by TGF-β signaling

C. Rossi, M. Enzo, D. Segat, 2018, Histochemistry and Cell Biology.

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

S. Papa, N. Ticozzi, F. Verde, 2017, Molecular genetics and metabolism reports.

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

S. Papa, N. Ticozzi, F. Verde, 2017, Molecular genetics and metabolism reports.

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families

M. Enzo, D. Segat, Paola de Gemmis, 2017, Metabolic Brain Disease.

Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS

M. Pandolfo, Paola de Gemmis, U. Hladnik, 2011, Journal of Molecular Neuroscience.