UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 235

Sortiert nach

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

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

2006

Volltextzugriff (PDF)

Parkinsonism among Gaucher disease carriers

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

2004

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2006

Volltextzugriff (PDF)

Divergent phenotypes in Gaucher disease implicate the role of modifiers

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

2005

Volltextzugriff (PDF)

T.P.24

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

2014

Volltextzugriff (PDF)

A case with multiple gynecological malignancies

International journal of gynecological cancer, 2005-03, Vol.15 (2), p.372-376

2005

Volltextzugriff (PDF)

GBA1-Associated Parkinson’s Disease Is a Distinct Entity

International journal of molecular sciences, 2024-07, Vol.25 (13), p.7102

2024

Volltextzugriff (PDF)

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

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

2009

Volltextzugriff (PDF)

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

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

2008

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Glucocerebrosidase mutations in subjects with parkinsonism

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

2004

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS

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

2019

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

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

2020

Volltextzugriff (PDF)

000237 ANGIOGENESIS, ESTROGEN AND PROGESTERONE RECEPTOR COUNT IN TAMOXIFEN INDUCED ENDOMETRIAL PATHOLOGIES

International journal of gynecological cancer, 2005-09, Vol.15 (Suppl 2), p.116-117

2005

Volltextzugriff (PDF)

NEW THERAPEUTIC APPROACHES AND THEIR READOUT: O.20Results from ATB200-02: first-in-human, open-label, phase 1/2 study of ATB200 co-administered with AT2221 for Pompe disease

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S92-S92

2018

Volltextzugriff (PDF)

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S92

2018

Volltextzugriff (PDF)

1 – 25 von 235

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(184)
Mit Volltextzugriff
(198)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

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

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

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Divergent phenotypes in Gaucher disease implicate the role of modifiers

T.P.24

A case with multiple gynecological malignancies

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

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

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

Glucocerebrosidase mutations in subjects with parkinsonism

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)

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

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

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

PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS

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)

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

000237 ANGIOGENESIS, ESTROGEN AND PROGESTERONE RECEPTOR COUNT IN TAMOXIFEN INDUCED ENDOMETRIAL PATHOLOGIES

NEW THERAPEUTIC APPROACHES AND THEIR READOUT: O.20Results from ATB200-02: first-in-human, open-label, phase 1/2 study of ATB200 co-administered with AT2221 for Pompe disease

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Suchergebnisse filtern