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Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Orphanet journal of rare diseases, 2020-12, Vol.15 (1), p.348-348, Article 348

2020

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Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Journal of neurology, 2015-04, Vol.262 (4), p.968-978

2015

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Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia

International journal of pharmaceutics, 2016-11, Vol.514 (1), p.229-237

2016

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Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies

Journal of neurology, 2017-10, Vol.264 (10), p.2110-2118

2017

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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

Journal of neurology, neurosurgery and psychiatry, 2016-01, Vol.87 (1), p.5-11

2016

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Langerhans cell histiocytosis in adults. Report from the International Registry of the Histiocyte Society

European journal of cancer (1990), 2003-11, Vol.39 (16), p.2341-2348

2003

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Pathogenesis of haemophagocytic lymphohistiocytosis

British journal of haematology, 2001-09, Vol.114 (4), p.761-769

2001

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Diagnosis of glycogenosis type II

Neurology, 2008-12, Vol.71 (23 Suppl 2), p.S4

2008

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Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

European journal of paediatric neurology, 2020-09, Vol.28, p.110-119

2020

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Management and treatment of glycogenosis type II

Neurology, 2008-12, Vol.71 (23 Suppl 2), p.S12

2008

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The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

Leukemia, 2009-04, Vol.23 (4), p.708-711

2009

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Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

Journal of medical genetics, 2006-12, Vol.43 (12), p.953-960

2006

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Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients

Radiation protection dosimetry, 2015-09, Vol.166 (1-4), p.95-100

2015

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Twenty-five novel mutations including duplications in the ATP7A gene

Clinical genetics, 2011-03, Vol.79 (3), p.243-253

2011

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Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene

Blood, 2001-02, Vol.97 (4), p.1131-1133

2001

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Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?

Experimental and clinical endocrinology & diabetes, 2011-11, Vol.119 (10), p.610-612

2011

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Duplication of the Pituitary Stalk in a Patient with a Heterozygous Deletion of Chromosome 14 Harboring the Thyroid Transcription Factor-1 Gene

The journal of clinical endocrinology and metabolism, 2010-08, Vol.95 (8), p.3595-3596

2010

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Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis

Journal of ultrasound, 2012-09, Vol.15 (3), p.164-170

2012

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Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease

Digestive and liver disease, 2005-09, Vol.37 (9), p.635-645

2005

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Enzyme replacement therapy in adult-onset glycogenosis II: Is quantitative muscle MRI helpful?

Muscle & nerve, 2009-07, Vol.40 (1), p.122-125

2009

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Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis

European journal of neurology, 2010-07, Vol.17 (7), p.957-962

2010

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Enzyme replacement therapy in late-onset type II glycogenosis

European journal of neurology, 2009-07, Vol.16 (7), p.e125-e125

2009

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Twenty‐five novel mutations including duplications in the ATP7A gene

Clinical genetics, 2011-03, Vol.79 (3), p.243-253

2011

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Langerhans' cell histiocytosis: is there a role for genetics?

Haematologica (Roma), 2001-10, Vol.86 (10), p.1009

2001

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Journal of medical genetics, 2001-06, Vol.38 (6), p.417-420

2001

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Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

Langerhans cell histiocytosis in adults. Report from the International Registry of the Histiocyte Society

Pathogenesis of haemophagocytic lymphohistiocytosis

Diagnosis of glycogenosis type II

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

Management and treatment of glycogenosis type II

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients

Twenty-five novel mutations including duplications in the ATP7A gene

Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene

Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?

Duplication of the Pituitary Stalk in a Patient with a Heterozygous Deletion of Chromosome 14 Harboring the Thyroid Transcription Factor-1 Gene

Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis

Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease

Enzyme replacement therapy in adult-onset glycogenosis II: Is quantitative muscle MRI helpful?

Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis

Enzyme replacement therapy in late-onset type II glycogenosis

Twenty‐five novel mutations including duplications in the ATP7A gene

Langerhans' cell histiocytosis: is there a role for genetics?

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

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