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Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

Neurology, 2006-09, Vol.67 (5), p.908-910

2006

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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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Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3

The Journal of pediatrics, 2003-08, Vol.143 (2), p.273-276

2003

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Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Concensus (GED-C) Delphi initiative (vol 49, pg 578, 2019)

INTERNAL MEDICINE JOURNAL, 2019-08, Vol.49 (8), p.1059

2019

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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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Divergent phenotypes in Gaucher disease implicate the role of modifiers

Journal of medical genetics, 2005-06, Vol.42 (6), p.e37-e37

2005

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T.P.24

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.871-872

2014

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GBA1 -Associated Parkinson's Disease Is a Distinct Entity

International journal of molecular sciences, 2024-06, Vol.25 (13), p.7102

2024

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The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

Movement disorders, 2009-08, Vol.24 (11), p.1571-1578

2009

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Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

Neurology, 2008-03, Vol.70 (12), p.976-978

2008

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T.P.46 A novel phase 2a study design to investigate drug-drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha-glucosidase in subjects with Pompe disease

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.852-852

2012

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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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T.P.45 An ongoing phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha glucosidase in subjects with Pompe disease – Preliminary results

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.852-852

2012

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P3.038 GBA mutations and clinical features of patients evaluated at a referral clinic for Parkinson disease

Parkinsonism & related disorders, 2009, Vol.15, p.S157-S158

2009

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Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

Internal medicine journal, 2019-05, Vol.49 (5), p.578-591

2019

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An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

Drug design, development and therapy, 2016-01, Vol.10 (Issue 1), p.1771-1781

2016

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Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease

Drug design, development and therapy, 2015, Vol.9 (default), p.3435-3444

2015

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P372 Safety of home administration of cipaglucosidase alfa + miglustat in late-onset Pompe disease: results from multiple clinical trials

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S151-S151

2023

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FP.17 Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S73

2022

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Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease

Skeletal radiology, 2011-12, Vol.40 (12), p.1611-1615

2011

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PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S122

2019

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PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS: O.22First-in-human study of ATB200/AT2221 in patients with Pompe disease: 24-month functional assessment results from the ATB200-02 trial

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S122-S122

2019

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AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S49

2020

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AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE: P.03 NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in late-onset Pompe disease (LOPD)

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S49-S49

2020

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Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

Parkinsonism among Gaucher disease carriers

Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Concensus (GED-C) Delphi initiative (vol 49, pg 578, 2019)

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

Divergent phenotypes in Gaucher disease implicate the role of modifiers

T.P.24

GBA1 -Associated Parkinson's Disease Is a Distinct Entity

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

T.P.46 A novel phase 2a study design to investigate drug-drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha-glucosidase in subjects with Pompe disease

Glucocerebrosidase mutations in subjects with parkinsonism

T.P.45 An ongoing phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha glucosidase in subjects with Pompe disease – Preliminary results

P3.038 GBA mutations and clinical features of patients evaluated at a referral clinic for Parkinson disease

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease

P372 Safety of home administration of cipaglucosidase alfa + miglustat in late-onset Pompe disease: results from multiple clinical trials

FP.17 Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease

PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS

PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS: O.22First-in-human study of ATB200/AT2221 in patients with Pompe disease: 24-month functional assessment results from the ATB200-02 trial

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE: P.03 NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in late-onset Pompe disease (LOPD)

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