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Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group

Oncotarget, 2016-05, Vol.7 (20), p.28914-28919

2016

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Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?

Pulmonology, 2021-11, Vol.27 (6), p.566-568

2021

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Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up

Frontiers in cell and developmental biology, 2022-02, Vol.10, p.793566-793566

2022

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Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia

International journal of hematology, 2014-02, Vol.99 (2), p.208-212

2014

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Dietary treatment in adult‐onset type II glycogenosis

Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.590-590

2006

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Polymorphism in exercise genes and respiratory function in late-onset Pompe disease

Journal of applied physiology (1985), 2021-12, Vol.131 (6), p.1762-1771

2021

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A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Molecular therapy, 2014-11, Vol.22 (11), p.2004-2012

2014

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Specific polymorphisms of cytokine genes are associated with different risks to develop single‐system or multi‐system childhood Langerhans cell histiocytosis

British journal of haematology, 2006-03, Vol.132 (6), p.784-787

2006

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Genotype-phenotype correlation in Pompe disease, a step forward

Orphanet journal of rare diseases, 2014-08, Vol.9 (1), p.102-102, Article 102

2014

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Secondary Mutations of JAK3 and SETBP1 in Juvenile Myelomonocytic Leukemia and Their Propagating Capacity; A Report from the AIEOP Study Group

Blood, 2014-12, Vol.124 (21), p.4625-4625

2014

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Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.104-110

2012

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Germ‐line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia

British journal of haematology, 2009-12, Vol.147 (5), p.706-709

2009

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Deletion of PAX9 and oligodontia: a third family and review of the literature

International journal of paediatric dentistry, 2008-11, Vol.18 (6), p.441-445

2008

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Ptosis as a feature of late-onset glycogenosis type II

Neurology, 2007-07, Vol.69 (1), p.116; author reply 116-116

2007

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The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Genetics in medicine, 2010-04, Vol.12 (4), p.206-211

2010

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A Chaperone Enhances Blood [alpha]-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Molecular therapy, 2014-11, Vol.22 (11), p.2004

2014

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The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia

Pediatric blood & cancer, 2012-09, Vol.59 (3), p.580-582

2012

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TNF-α-238GA, IL-1α-889CC and IL-10–819CC Polymorphisms Confere an Increased Risk to Develop Multisystem Langerhans Cell Histiocytosis

Blood, 2004-11, Vol.104 (11), p.1331-1331

2004

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Integrin-Mediated Neurite Outgrowth in Neuroblastoma Cells Depends on the Activation of Potassium Channels

The Journal of cell biology, 1993-09, Vol.122 (5), p.1131-1143

1993

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Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis

Pediatric research, 2004-03, Vol.55 (3), p.478-484

2004

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short report: Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis

British journal of haematology, 2006-03, Vol.132 (6), p.784-787

2006

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Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects

Cancer genetics and cytogenetics, 2004-01, Vol.148 (2), p.155-158

2004

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Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene

Cancer genetics and cytogenetics, 2001-01, Vol.124 (2), p.147-151

2001

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Familial partial monosomy 7 and myelodysplasia

Cancer genetics and cytogenetics, 2001-01, Vol.124 (2), p.147-151

2001

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Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group

Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?

Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up

Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia

Dietary treatment in adult‐onset type II glycogenosis

Polymorphism in exercise genes and respiratory function in late-onset Pompe disease

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Specific polymorphisms of cytokine genes are associated with different risks to develop single‐system or multi‐system childhood Langerhans cell histiocytosis

Genotype-phenotype correlation in Pompe disease, a step forward

Secondary Mutations of JAK3 and SETBP1 in Juvenile Myelomonocytic Leukemia and Their Propagating Capacity; A Report from the AIEOP Study Group

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

Germ‐line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia

Deletion of PAX9 and oligodontia: a third family and review of the literature

Ptosis as a feature of late-onset glycogenosis type II

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

A Chaperone Enhances Blood [alpha]-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia

TNF-α-238GA, IL-1α-889CC and IL-10–819CC Polymorphisms Confere an Increased Risk to Develop Multisystem Langerhans Cell Histiocytosis

Integrin-Mediated Neurite Outgrowth in Neuroblastoma Cells Depends on the Activation of Potassium Channels

Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis

short report: Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis

Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects

Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene

Familial partial monosomy 7 and myelodysplasia

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