Citation Impact
Citing Papers
Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders
2011
Deep Brain Stimulation for Treatment-Resistant Depression
2005 Standout
Astrocytes: biology and pathology
2009 Standout
MLC1: A Novel Protein in Distal Astroglial Processes
2005
Glutamate receptor ion channels
2005 Standout
RIM1α and Interacting Proteins Involved in Presynaptic Plasticity Mediate Prepulse Inhibition and Additional Behaviors Linked to Schizophrenia
2010 StandoutNobel
Glutamate Receptor Ion Channels: Structure, Regulation, and Function
2010 Standout
Diagnosis of amyotrophic lateral sclerosis
1998
Free radicals, antioxidants, and human disease: curiosity, cause, or consequence?
1994 Standout
New Fluorinated Rhodamines for Optical Microscopy and Nanoscopy
2010 StandoutNobel
Role of glutamate in schizophrenia: integrating excitatory avenues of research
2008
Differential analysis of gene regulation at transcript resolution with RNA-seq
2012 Standout
mRNA vaccines — a new era in vaccinology
2018 StandoutNobel
Mechanism and medical implications of mammalian autophagy
2018 Standout
Linkage and associated studies of schizophrenia
2000
Age-related changes in the expression of schizophrenia susceptibility genes in the human prefrontal cortex
2008
The role of autophagy in neurodegenerative disease
2013 Standout
Glutamate uptake
2001 Standout
Hydrogen peroxide mediates amyloid β protein toxicity
1994 Standout
Commentary: Genome-based CNS drug discovery: d-Amino acid oxidase (DAAO) as a novel target for antipsychotic medications: Progress and challenges
2009
Prevalence of Lysosomal Storage Disorders
1999 Standout
Many facets of the peripheral myelin protein PMP22 in myelination and disease
1998
Recognition of duplex RNA by the deaminase domain of the RNA editing enzyme ADAR2
2015
The Expanding Social Network of Ionotropic Glutamate Receptors: TARPs and Other Transmembrane Auxiliary Subunits
2011
TARPs differentially decorate AMPA receptors to specify neuropharmacology
2010
Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies
2008 Standout
Bipolar and major depressive disorder: Neuroimaging the developmental-degenerative divide
2009
Gene regulation in the immune system by long noncoding RNAs
2017
TRIBE: Hijacking an RNA-Editing Enzyme to Identify Cell-Specific Targets of RNA-Binding Proteins
2016 StandoutNobel
Glutamate and Schizophrenia: Phencyclidine, N‐Methyl‐d‐Aspartate Receptors, and Dopamine–Glutamate Interactions
2007
Resequencing and association study of vesicular glutamate transporter 1 gene (VGLUT1) with schizophrenia
2009
A-to-I RNA editing — immune protector and transcriptome diversifier
2018
Mechanically Activated Ion Channels
2015 StandoutNobel
Brain injury in premature infants: a complex amalgam of destructive and developmental disturbances
2008 Standout
A Novel Ultrasensitive In Situ Hybridization Approach to Detect Short Sequences and Splice Variants with Cellular Resolution
2017
The coagulation cascade: initiation, maintenance, and regulation
1991 Standout
Brain-Derived Neurotrophic Factor Val66Met and Psychiatric Disorders: Meta-Analysis of Case-Control Studies Confirm Association to Substance-Related Disorders, Eating Disorders, and Schizophrenia
2007
The neurodevelopmental model of schizophrenia: update 2005
2005
Ca2+-activated K+ channels: molecular determinants and function of the SK family
2004
Rethinking schizophrenia
2010 StandoutNature
Alternative Splicing of RNA Triplets Is Often Regulated and Accelerates Proteome Evolution
2012
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Rapid Communication: Cu/Zn Superoxide Dismutase Activity in Familial and Sporadic Amyotrophic Lateral Sclerosis
1994
A Transcriptome Database for Astrocytes, Neurons, and Oligodendrocytes: A New Resource for Understanding Brain Development and Function
2008 Standout
Neuregulin-1 Modulates Hippocampal Gamma Oscillations: Implications for Schizophrenia
2008
1H and 31P NMR and HPLC studies of mouse L1210 Leukemia cell extracts: The effect of Au(I) and Cu(I) diphosphine complexes on the cell metabolism
1991
ALS-Linked SOD1 Mutant G85R Mediates Damage to Astrocytes and Promotes Rapidly Progressive Disease with SOD1-Containing Inclusions
1997 Standout
The biogenesis, biology and characterization of circular RNAs
2019 Standout
Red‐Emitting Rhodamines with Hydroxylated, Sulfonated, and Phosphorylated Dye Residues and Their Use in Fluorescence Nanoscopy
2012 StandoutNobel
Synthesis and utility of sulfated chromogenic carbohydrate model substrates for measuring activities of mucin-desulfating enzymes
2002
The Endophenotype Concept in Psychiatry: Etymology and Strategic Intentions
2003 Standout
The involvement of the NMDA receptor d-serine/glycine site in the pathophysiology and treatment of schizophrenia
2009
Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis
1997 StandoutNobel
The glial growth factors deficiency and synaptic destabilization hypothesis of schizophrenia
2002
Structural Bases of Desensitization in AMPA Receptor-Auxiliary Subunit Complexes
2017 StandoutNobel
Glutamate and Schizophrenia: Beyond the Dopamine Hypothesis
2006
The molecular neurobiology of depression
2008 StandoutNature
Neuroscience, Molecular Biology, and the Childhood Roots of Health Disparities
2009 Standout
Amyotrophic Lateral Sclerosis
2001 Standout
Gene regulation by long non-coding RNAs and its biological functions
2020 Standout
Red‐Emitting Rhodamine Dyes for Fluorescence Microscopy and Nanoscopy
2009 StandoutNobel
Lysosomal storage diseases
1995
Beyond aerobic glycolysis: Transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis
2007 Standout
Elucidation of AMPA receptor–stargazin complexes by cryo–electron microscopy
2016 StandoutScienceNobel
Abnormal neural oscillations and synchrony in schizophrenia
2010 Standout
A critical analysis of codon optimization in human therapeutics
2014
Lysosomal storage diseases
2016
Adult onset motor neuron disease: worldwide mortality, incidence and distribution since 1950.
1992
Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B
1976
Next Generation of Fluorine-Containing Pharmaceuticals, Compounds Currently in Phase II–III Clinical Trials of Major Pharmaceutical Companies: New Structural Trends and Therapeutic Areas
2016 Standout
Ionizable lipid nanoparticles deliver mRNA to pancreatic β cells via macrophage-mediated gene transfer
2023 StandoutNobel
The cell-adhesion G protein-coupled receptor BAI3 is a high-affinity receptor for C1q-like proteins
2011 StandoutNobel
Loss of erbB signaling in oligodendrocytes alters myelin and dopaminergic function, a potential mechanism for neuropsychiatric disorders
2007
Nuclear Magnetic Resonance Technology for Medical Studies
1984 StandoutScienceNobel
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.
1989
Ionizable lipid nanoparticles for in utero mRNA delivery
2021 StandoutNobel
[59] Hexosaminidases A and B from human placenta
1978
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
Effects of growth hormone on apolipoprotein-B (apoB) messenger ribonucleic acid editing, and apoB 48 and apoB 100 synthesis and secretion in the rat liver.
1992
Location of a Major Susceptibility Locus for Familial Schizophrenia on Chromosome 1q21-q22
2000 Science
Biosynthesis of Apolipoprotein B48-containing Lipoproteins
1996 StandoutNobel
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
1990
Cellular Applications of 31 P and 13 C Nuclear Magnetic Resonance
1979 Science
Purification, Biochemical and Immunological Characterisation of Hexosaminidase A from Variant AB of Infantile GM2 Gangliosidosis
1978
Effect of COMT Val 108/158 Met genotype on frontal lobe function and risk for schizophrenia
2001 Standout
Advances in Copper Complexes as Anticancer Agents
2013 Standout
Genetics and Therapies for GM2 Gangliosidosis
2018
Protein Glycoengineering Enabled by the Versatile Synthesis of Aminooxy Glycans and the Genetically Encoded Aldehyde Tag
2011 StandoutNobel
Lysosomal Dysfunction and α‐Synuclein Aggregation in Parkinson's Disease: Diagnostic Links
2016
Polar Red‐Emitting Rhodamine Dyes with Reactive Groups: Synthesis, Photophysical Properties, and Two‐Color STED Nanoscopy Applications
2013 StandoutNobel
Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.
1980 Standout
New GM1 Ganglioside Derivatives for Selective Single and Double Labelling of the Natural Glycosphingolipid Skeleton
2009 StandoutNobel
Diagnosis and prevention of lysosomal storage diseases in Russia
1992
Works of Ruth Navon being referenced
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
1992
Is the G72/G30 locus associated with schizophrenia? single nucleotide polymorphisms, haplotypes, and gene expression analysis
2004
Sulforhodamine GM1-ganglioside: synthesis and physico-chemical properties
1994
Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells
1996
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease
1996
Deregulation of the A-to-I RNA editing mechanism in psychiatric disorders
2011
Tay-Sachs disease andHEXA mutations among Moroccan Jews
1997
Stargazin involvement with bipolar disorder and response to lithium treatment
2008
Juvenile‐onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene
1997
Systematic Review and Meta-Analysis of the Association between β2-Adrenoceptor Polymorphisms and Asthma: A HuGE Review
2005
hKCa3/KCNN3 potassium channel gene: association of longer CAG repeats with schizophrenia in Israeli Ashkenazi Jews, expression in human tissues and localization to chromosome 1q21
1999
Transmission disequilibrium and haplotype analyses of the G72/G30 locus: Suggestive linkage to schizophrenia in Palestinian Arabs living in the North of Israel
2005
The involvement of ErbB4 with schizophrenia: Association and expression studies
2006
Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study
2015
Is the WKL1 gene associated with schizophrenia?
2003
Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families
2007
[Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset].
1997
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.
1983
Adult GM 2 gangliosidosis in association with Tay‐Sachs disease
1981
Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.
1985
Phosphate metabolites in lymphoid, Friend erythroleukemia, and HeLa cells observed by high-resolution 31P nuclear magnetic resonance.
1978
Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.
1976
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
1992
Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency
1984
The Mutations in Ashkenazi Jews with Adult G M2 Gangliosidosis, the Adult Form of Tay-Sachs Disease
1989 Science
Specific Determination of N‐Acetyl‐β‐d ‐hexosaminidase Isozymes A and B by Radioimmunoassay and Radial Immunodiffusion
1975
Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.
1973
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
1991
Hepatic Lipid Metabolism in Hypophysectomized and Growth Hormone-Treated Hypophysectomized Rats
1970
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
1990
Tay-Sachs disease: one-step assay of β-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate
1983