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Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.357-368

2017

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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

Human molecular genetics, 2005-04, Vol.14 (8), p.1077-1086

2005

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IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I

Human mutation, 2017-11, Vol.38 (11), p.1555-1568

2017

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Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Human mutation, 2004-01, Vol.23 (1), p.47-56

2004

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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

American journal of human genetics, 2006-11, Vol.79 (5), p.807-819

2006

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Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry

Molecular genetics and metabolism, 2009-04, Vol.96 (4), p.218-224

2009

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Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

Molecular genetics and metabolism, 2007-01, Vol.90 (1), p.77-80

2007

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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Human mutation, 2004-01, Vol.23 (1), p.47-56

2004

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Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

Molecular genetics and metabolism, 2007, Vol.90 (1), p.77-80

2007

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Case of X-linked myopathy with excessive autophagy

Journal of child neurology, 2006-05, Vol.21 (5), p.431-433

2006

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Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

Human genetics, 2001-11, Vol.109 (5), p.503-511

2001

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The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II

Human mutation, 1998, Vol.11 (5), p.413-413

1998

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Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

Journal of medical genetics, 2000-09, Vol.37 (9), p.704-707

2000

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A case of X Linked myopathy with autophagy

Developmental medicine and child neurology, 2004-01, Vol.46, p.26

2004

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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

Journal of medical genetics, 1998-11, Vol.35 (11), p.910-914

1998

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Cloning and nucleotide sequence of the gene encoding dinitrogenase reductase ( nifH) from the cyanobacterium Nostoc 6720

Biochimica et biophysica acta, 1994-10, Vol.1219 (2), p.548-550

1994

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Models of Peer Support to Remediate Post-Intensive Care Syndrome: A Report Developed by the Society of Critical Care Medicine Thrive International Peer Support Collaborative

Critical care medicine, 2019-01, Vol.47 (1), p.e21

2019

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Key mechanisms by which post-ICU activities can improve in-ICU care: results of the international THRIVE collaboratives

Intensive care medicine, 2019-07, Vol.45 (7), p.939-947

2019

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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Nature genetics, 2020-01, Vol.52 (1), p.56-73

2020

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Nature genetics, 2015-04, Vol.47 (4), p.373-380

2015

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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Nature (London), 2014-10, Vol.514 (7520), p.92-97

2014

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Heritable DNA methylation marks associated with susceptibility to breast cancer

Nature communications, 2018-02, Vol.9 (1), p.867-12, Article 867

2018

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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

American journal of human genetics, 2020-11, Vol.107 (5), p.837-848

2020

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SARS-CoV-2-specific immune responses and clinical outcomes after COVID-19 vaccination in patients with immune-suppressive disease

Nature medicine, 2023-07, Vol.29 (7), p.1760-1774

2023

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Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry

Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

Case of X-linked myopathy with excessive autophagy

Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

A case of X Linked myopathy with autophagy

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

Cloning and nucleotide sequence of the gene encoding dinitrogenase reductase ( nifH) from the cyanobacterium Nostoc 6720

Enablers and Barriers to Implementing ICU Follow-Up Clinics and Peer Support Groups Following Critical Illness: The Thrive Collaboratives

Models of Peer Support to Remediate Post-Intensive Care Syndrome: A Report Developed by the Society of Critical Care Medicine Thrive International Peer Support Collaborative

Key mechanisms by which post-ICU activities can improve in-ICU care: results of the international THRIVE collaboratives

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Heritable DNA methylation marks associated with susceptibility to breast cancer

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

SARS-CoV-2-specific immune responses and clinical outcomes after COVID-19 vaccination in patients with immune-suppressive disease

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