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Quantifying the Phylodynamic Forces Driving Papillomavirus Evolution

Molecular biology and evolution, 2011-07, Vol.28 (7), p.2101-2113

2011

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How do obligate parasites evolve? A multi-gene phylogenetic analysis of downy mildews

Fungal genetics and biology, 2007-02, Vol.44 (2), p.105-122

2007

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The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era

American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1783-1791

2023

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Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Human mutation, 2020-03, Vol.41 (3), p.632-640

2020

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Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.106963-106963, Article 106963

2023

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Journal of medical genetics, 2017-04, Vol.54 (4), p.288

2017

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Parkinsonism among Gaucher disease carriers

Journal of medical genetics, 2004-12, Vol.41 (12), p.937-940

2004

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Glucocerebrosidase mutations in subjects with parkinsonism

Molecular genetics and metabolism, 2004, Vol.81 (1), p.70-73

2004

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Genome-guided analysis allows the identification of novel physiological traits in Trichococcus species

BMC genomics, 2020-01, Vol.21 (1), p.24-24, Article 24

2020

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ACE phenotyping in Gaucher disease

Molecular genetics and metabolism, 2018-04, Vol.123 (4), p.501-510

2018

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Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.115-123

2016

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Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.122-129

2017

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Expression profile of genes from 12p in testicular germ cell tumors of adolescents and adults associated with i(12p) and amplification at 12p11.2-p12.1

Oncogene, 2003-03, Vol.22 (12), p.1880-1891

2003

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A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability

Genetics in medicine, 2014-05, Vol.16 (5), p.359-366

2014

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Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease

JIMD Reports, Volume 25, 2016-01, Vol.25, p.95-106

2016

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Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.631-636

2011

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Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease

Clinical genetics, 2006-04, Vol.69 (4), p.355-357

2006

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Clinical course and prognosis in patients with Gaucher disease and parkinsonism

Neurology. Genetics, 2016-04, Vol.2 (2), p.e57-e57

2016

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Gaucher mutation N188S is associated with myoclonic epilepsy

Human mutation, 2005-09, Vol.26 (3), p.271-273

2005

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Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial

Molecular genetics and metabolism reports, 2016-12, Vol.9, p.25-28

2016

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Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

Genetics in medicine, 2002-05, Vol.4 (3), p.118-125

2002

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Definition of chromosome aberrations in testicular germ cell tumor cell lines by 24-color karyotyping and complementary molecular cytogenetic analyses

Cancer genetics and cytogenetics, 2001-07, Vol.128 (2), p.120-129

2001

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Quantifying the Phylodynamic Forces Driving Papillomavirus Evolution

How do obligate parasites evolve? A multi-gene phylogenetic analysis of downy mildews

The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Parkinsonism among Gaucher disease carriers

Glucocerebrosidase mutations in subjects with parkinsonism

Genome-guided analysis allows the identification of novel physiological traits in Trichococcus species

ACE phenotyping in Gaucher disease

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

Expression profile of genes from 12p in testicular germ cell tumors of adolescents and adults associated with i(12p) and amplification at 12p11.2-p12.1

A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability

Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease

Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications

Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

Gaucher mutation N188S is associated with myoclonic epilepsy

Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

Definition of chromosome aberrations in testicular germ cell tumor cell lines by 24-color karyotyping and complementary molecular cytogenetic analyses

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