Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
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Guidelines for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack
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Current knowledge on exosome biogenesis and release
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Saposin-like proteins (SAPLIP) carry out diverse functions on a common backbone structure.
1995
The adult form of Niemann-Pick disease type C
2006
Mechanisms, regulation and functions of the unfolded protein response
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Signals from the lysosome: a control centre for cellular clearance and energy metabolism
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Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
1996
Cardiac manifestations of Anderson–Fabry disease in heterozygous females
2002
Sphingolipid activator proteins: proteins with complex functions in lipid degradation and skin biogenesis
2001
Mechanism and medical implications of mammalian autophagy
2018 Standout
Modeling electrostatic effects in proteins
2006 StandoutNobel
Psychosis as a presentation of physical disease in adolescence: a case of Niemann–Pick disease, type C
1998
Neurodegenerative lysosomal disorders: A continuum from development to late age
2008
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function
2009 Standout
Niemann-Pick disease type C
2010 Standout
Sphingolipids and their metabolism in physiology and disease
2017 Standout
Consequences of NPC1 and NPC2 loss of function in mammalian neurons
2004
Mechanisms and consequences of impaired lipid trafficking in Niemann–Pick type C1-deficient mammalian cells
2009
Role of Ser-65 in the Activity of α-Galactosidase A: Characterization of a Point Mutation (S65T) Detected in a Patient with Fabry Disease
2000
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
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Principles of bioactive lipid signalling: lessons from sphingolipids
2008 Standout
Efflux-mediated heavy metal resistance in prokaryotes
2003 Standout
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2
2002
Cellular uptake of saposin (SAP) precursor and lysosomal delivery by the low density lipoprotein receptor-related protein (LRP)
1998
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1
2003
Secondary lipid accumulation in lysosomal disease
2008
An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium
1991
Simulating electrostatic energies in proteins: Perspectives and some recent studies of pKas, redox, and other crucial functional properties
2011 StandoutNobel
Fabry disease: Immunocytochemical characterization of neuronal involvement
1992
Autophagy: Renovation of Cells and Tissues
2011 Standout
Enzyme Replacement Therapy in Fabry Disease
2001 Standout
Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
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Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
2006
Activation of transcription factors AP-1 and NF-κB in chronic cyclosporine A nephrotoxicity: role in beneficial effects of magnesium supplementation1
2003 StandoutNobel
Recent Advances in Elucidating Niemann‐Pick C Disease
1998
Lysosomal storage disorders
2005
Intraepidermal lymphocytes in psoriatic lesions are activated GMP‐17(TIA‐1)+CD8+CD3+ CTLs as determined by phenotypic analysis
1998 StandoutNobel
A New Phenotype of Fabry Disease with Intermediate Severity between the Classical Form and the Cardiac Variant
2001
Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry’s disease
2001
Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy
2001
Physiology and pathophysiology of sphingolipid metabolism and signaling
2000
Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma
2003
Exosomes – vesicular carriers for intercellular communication
2009 Standout
GLYCAM06: A generalizable biomolecular force field. Carbohydrates
2007 Standout
Cholesterol homeostasis in neurons and glial cells
2005
The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood
2006
Utilization of lipids during exercise in human subjects: metabolic and dietary constraints
1998
Involvement of Ets Transcription Factors and Targets in Osteoblast Differentiation and Matrix Mineralization
2000
A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies
2001
Neurological manifestations in Fabry's disease
2007
Membrane lipids: where they are and how they behave
2008 Standout
Assessment of epidermal dendritic cell markers and T‐lymphocytes in psoriasis
1994
Endosome maturation
2011 Standout
Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease
2010
Acid and neutral sphingomyelinases: roles and mechanisms of regulation
2004
An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy
1995
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease Evidence for a disease specific abnormality of the myocardial interstitium
2003
Results of a Nationwide Screening for Anderson-Fabry Disease among Dialysis Patients
2004
Asymmetric Multicomponent Reactions (AMCRs): The New Frontier
2005 Standout
Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes
2005
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
2016
Protein therapeutics: a summary and pharmacological classification
2007 Standout
European Guidelines for Obesity Management in Adults
2015 Standout
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
2001
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann–Pick C1‐deficient neurons
2002
Lipid Changes in Niemann-Pick Disease Type C Brain: Personal Experience and Review of the Literature
1999
Biosynthesis and degradation of mammalian glycosphingolipids
2003
PRINCIPLES OF LYSOSOMAL MEMBRANE DIGESTION: Stimulation of Sphingolipid Degradation by Sphingolipid Activator Proteins and Anionic Lysosomal Lipids
2005
Nanozymes: Classification, Catalytic Mechanisms, Activity Regulation, and Applications
2019 Standout
Glycosphingolipid degradation and animal models of GM2‐gangliosidoses
1998
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
1993
Lysosomal storage diseases
2016
The Biology of NKT Cells
2006 Standout
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Aggregation-Induced Emission: Together We Shine, United We Soar!
2015 Standout
Guidelines for the Primary Prevention of Stroke
2014 Standout
Neuropathic Pain: From Mechanisms to Treatment
2020 Standout
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
Ionizable lipid nanoparticles for in utero mRNA delivery
2021 StandoutNobel
The Dendritic Cell Receptor for Endocytosis, Dec-205, Can Recycle and Enhance Antigen Presentation via Major Histocompatibility Complex Class II–Positive Lysosomal Compartments
2000 StandoutNobel
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
Sphingolipide – ihre Stoffwechselwege und die Pathobiochemie neurodegenerativer Erkrankungen
1999
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
2003
Recommendations on the diagnosis and management of Niemann-Pick disease type C
2009
Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping
2013
Structure, Conformation, and Dynamics of Bioactive Oligosaccharides: Theoretical Approaches and Experimental Validations
2000
mTOR: a pharmacologic target for autophagy regulation
2015 Standout
Guidelines for the Prevention of Stroke in Patients With Stroke or Transient Ischemic Attack
2010 Standout
Works of F. Šmíd being referenced
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs
1993
Lex glycosphingolipids-mediated cell aggregation
1998
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease
1990
Niemann-Pick disease type C
1985
Multiple sulphatase deficiency in homozygotic twins
1983
Liver findings in Niemann-Pic disease type C
1984
Niemann-Pick disease type C with enhanced glycolipid storage
1984
Lysosomal non-lipid component of Gaucher’s cells
1978