E. Panza

发表

Δ1‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder

C. Marco-Marín, V. Rubio, J. Llácer, 2020, Journal of inherited metabolic disease.

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

C. Balduini, A. Pecci, M. Seri, 2011, Thrombosis and Haemostasis.

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

A. Pession, G. Romeo, C. Graziano, 2009, Blood.

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

D. Martinelli, M. Seri, P. Magini, 2019, Front. Neurol..

The clear cell sarcoma functional genomic landscape.

Krystal M. Straessler, Kevin B. Jones, L. Ding, 2021, The Journal of clinical investigation.

A family with autosomal dominant leukodystrophy linked to 5q23.2–q23.3 without lamin B1 mutations

E. Gregorio, G. Vaula, L. Pinessi, 2010, European journal of neurology.

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

G. Bernardi, A. Borreca, T. Pippucci, 2009, European journal of neurology.

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

R. Ravazzolo, C. Marco-Marín, V. Rubio, 2016, Brain : a journal of neurology.

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

C. Marco-Marín, V. Rubio, F. Faravelli, 2019, Annals of clinical and translational neurology.

Transfection of the mutant MYH 9 cDNA reproduces the most typical cellular phenotype of MYH 9-related disease in different cell lines

R. Ravazzolo, C. Balduini, A. Pecci, 2015 .

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

R. Ravazzolo, C. Balduini, A. Pecci, 2008, PathoGenetics.

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

M. Devoto, T. Pippucci, G. Barbara, 2007, European Journal of Human Genetics.

Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

P. Noris, F. Fabris, A. Savoia, 2010, Thrombosis and Haemostasis.

A heritable cause of cleft lip and palate—Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis

T. Pippucci, G. Ferrero, M. Silengo, 2010, European Journal of Pediatrics.

Genetics of human enteric neuropathies

V. Stanghellini, C. Knowles, R. Giorgio, 2012, Progress in Neurobiology.

A. Pastore, G. Girotto, A. Savoia, 2010, European journal of haematology.

R. Ravazzolo, P. Noris, P. Koivisto, 2003, Medicine.

Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone.

C. Nanni, S. Avnet, N. Baldini, 2020, Bone.

New perspectives in the diagnosis and management of enteric neuropathies

G. Lindberg, C. Knowles, R. Giorgio, 2013, Nature Reviews Gastroenterology &Hepatology.

Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease

P. Noris, P. Koivisto, F. Fabris, 2008, Human mutation.

Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p

M. Devoto, G. Pappalardo, G. Tonini, 2007, Human Heredity.

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions

L. Botto, E. Panza, A. Openshaw, 2018, American journal of medical genetics. Part A.

Application of a Fluorescent PCR Method for Molecular Diagnosis of Posttransplant Lymphoproliferative Disorders on Routine Tissue Sections

M. Fiorentino, E. Gabusi, A. Altimari, 2005, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

M. Accadia, C. Rossi, S. Ferrari, 2023, Frontiers in Genetics.

Hereditary spastic paraplegia: Genetic heterogeneity and common pathways

A. Orlacchio, E. Panza, A. Meyyazhagan, 2022, Experimental Neurology.

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

E. Rugarli, R. Ravazzolo, T. Meitinger, 2007, International journal of molecular medicine.

Refinement of the SPG9 locus on chromosome 10q23.3‐24.2 and exclusion of candidate genes

R. Ravazzolo, G. Rouleau, G. Stevanin, 2008, European journal of neurology.

Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms

E. Panza, Antonio Orlacchio, Chiara Martinello, 2023, Expert review of proteomics.

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

A. Pession, G. Romeo, C. Graziano, 2009, Blood.