Citation Impact
Citing Papers
A Sulfilimine Bond Identified in Collagen IV
2009 StandoutScienceNobel
Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
2005 Science
Ferroptosis: molecular mechanisms and health implications
2020 Standout
Astrocytes: biology and pathology
2009 Standout
Calcitonin gene-related peptide-like immunoreactivity, in botulinum toxin-paralysed rat muscles
1994
ω-6 Polyunsaturated fatty acids extend life span through the activation of autophagy
2013 StandoutNobel
Skeletal Muscle Fatigue: Cellular Mechanisms
2008 Standout
Life Span Extension via eIF4G Inhibition Is Mediated by Posttranscriptional Remodeling of Stress Response Gene Expression in C. elegans
2011
Regulation of cell death: the calcium–apoptosis link
2003 Standout
Cerebral venous thrombosis: an update
2007 Standout
The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate
2010 Standout
Intracerebral haemorrhage
2009 Standout
Basement membranes and human disease
2009
Safety factor at the neuromuscular junction
2001
Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsy
2009
A Chemical Glycoproteomics Platform Reveals O-GlcNAcylation of Mitochondrial Voltage-Dependent Anion Channel 2
2013 StandoutNobel
A programmable Cas9-serine recombinase fusion protein that operates on DNA sequences in mammalian cells
2016
Current concepts in the pathogenesis of urea cycle disorders
2010
β-Neurexin Is a Ligand for the Staphylococcus aureus MSCRAMM SdrC
2010 StandoutNobel
Pediatric Multiple Sclerosis
2010
Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency
1995
Modulation of the FGF14:FGF14 Homodimer Interaction Through Short Peptide Fragments
2014
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
2009 StandoutNature
Induction of Cytoprotective Pathways Is Central to the Extension of Lifespan Conferred by Multiple Longevity Pathways
2012 StandoutNobel
What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer
2013 StandoutNobel
Store-Operated Calcium Channels
2005 Standout
Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity
2009 Standout
Reactive oxygen species (ROS) as pleiotropic physiological signalling agents
2020 Standout
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
2016 Standout
Dysmyelination Revealed through MRI as Increased Radial (but Unchanged Axial) Diffusion of Water
2002 Standout
Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation
2019
Cerebral Sinovenous Thrombosis in Children
2001 Standout
Chemosynthesis of bioresorbable poly(γ-butyrolactone) by ring-opening polymerisation: a review
2004
Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors
2020 Standout
Effects of Ageing on the Motor Unit: A Brief Review
1993
Diagnostic criteria for multiple sclerosis: 2010 Revisions to the McDonald criteria
2011 Standout
Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother
1995
Molecular genetics of Ca2+ stores and intracellular Ca2+ signalling
2001
D‐2‐hydroxyglutaric acid induces oxidative stress in cerebral cortex of young rats
2003
A cytoprotective perspective on longevity regulation
2013 StandoutNobel
Transcriptional co-activator PGC-1α drives the formation of slow-twitch muscle fibres
2002 StandoutNature
CHOP induces death by promoting protein synthesis and oxidation in the stressed endoplasmic reticulum
2004 Standout
Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination
2003 Standout
Small vessel disease: mechanisms and clinical implications
2019 Standout
Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin
1997
Ferroptosis: mechanisms, biology and role in disease
2021 Standout
Characterization of the Interaction of a Recombinant Soluble Neuroligin-1 with Neurexin-1β
2003 StandoutNobel
Health Supervision for Children With Down Syndrome
2011 Standout
Mammalian collagen IV
2008
The Pathobiology of Vascular Dementia
2013 Standout
Molybdenum cofactor transfer from bacteria to nematode mediates sulfite detoxification
2019 StandoutNobel
Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance
2015
VDAC, a multi-functional mitochondrial protein regulating cell life and death
2010
Aberrant redox signalling and stress response in age-related muscle decline: Role in inter- and intra-cellular signalling
2018
Moyamoya Disease and Moyamoya Syndrome
2009 Standout
Calcium-ATPases: Gene disorders and dysregulation in cancer
2015
Thrombosis of the Cerebral Veins and Sinuses
2005 Standout
Mitochondria in neuromuscular disorders
1998
Neuroimaging of Cerebral Venous Thrombosis
2005
Altered Ca2+ Responses in Muscles with Combined Mitochondrial and Cytosolic Creatine Kinase Deficiencies
1997
2021 Guideline for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack: A Guideline From the American Heart Association/American Stroke Association
2021 Standout
The Fibroblast Growth Factor signaling pathway
2015 Standout
Concepts of myelin and myelination in neuroradiology.
2000
Disrupted Proteolipid Protein Trafficking Results in Oligodendrocyte Apoptosis in an Animal Model of Pelizaeus-Merzbacher Disease
1998
Axonal Swellings and Degeneration in Mice Lacking the Major Proteolipid of Myelin
1998 Science
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
2009
Fibromuscular Dysplasia: State of the Science and Critical Unanswered Questions
2014
Mitochondrial Reactive Oxygen Species (ROS) and ROS-Induced ROS Release
2014 Standout
Guidelines for the Primary Prevention of Stroke
2014 Standout
Calcium signaling: A tale for all seasons
2002
Calcium Ion in Skeletal Muscle: Its Crucial Role for Muscle Function, Plasticity, and Disease
2000
The Genetic Architecture of Intracerebral Hemorrhage
2008
COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease
2010
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
Fiber Types in Mammalian Skeletal Muscles
2011 Standout
Effects of fatigue and training on sarcoplasmic reticulum Ca2+regulation in human skeletal muscle
2002
Arthrogryposis multiplex congenita
1998
Diagnosis and Management of Cerebral Venous Thrombosis
2011 Standout
Prognosis of Cerebral Vein and Dural Sinus Thrombosis
2004 Standout
Neuroimaging of Cerebral Venous Thrombosis
2005
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
2000
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
Acetylcholinesterase-transgenic mice display embryonic modulations in spinal cord choline acetyltransferase and neurexin Iβ gene expression followed by late-onset neuromotor deterioration
1997
Cerebral Venous Thrombosis
1992
Progressive resistance strength training for improving physical function in older adults
2009 Standout
Cerebral venous thrombosis
2004
Moyamoya Syndrome Associated With Down Syndrome: Outcome After Surgical Revascularization
2005
Investigating the functional link between TMEM165 and SPCA1
2019 StandoutNobel
Pharmacogenomics: Translating Functional Genomics into Rational Therapeutics
1999 StandoutScience
Alternate Heme Ligation Steers Activity and Selectivity in Engineered Cytochrome P450-Catalyzed Carbene-Transfer Reactions
2018 StandoutNobel
Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)
2016
Palaeoproteomic evidence identifies archaic hominins associated with the Châtelperronian at the Grotte du Renne
2016 StandoutNobel
STRUCTURE AND FUNCTION OF NEUROMUSCULAR JUNCTIONS IN THE VASTUS LATERALIS OF MAN
1992
Neurotoxins Affecting Neuroexocytosis
2000 Standout
Creatine and Creatinine Metabolism
2000 Standout
Works of L. M. E. Smit being referenced
Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy
1996
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene
2013
Unusual variants of Alexander's disease
2005
A myasthenic syndrome with congenital paucity of secondary synaptic clefts: CPSC Syndrome
1988
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
2005
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria)
2003
Computed tomographic diagnosis of septic sinus thrombosis and their complications
1988
Morphological changes in the human end plate with age
1990
Acute Hemiparesis as the Presenting Sign in a Heterozygote for Ornithine Transcarbamylase Deficiency
1990
Moyamoya Disease Associated with Renovascular Hypertension
1990
Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.
1994
Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion
1991
The first adult case with 4‐hydroxybutyric aciduria
1990
Arthrogryposis Multiplex Congenita due to Congenital Myasthenia
1980
A new case of dihydropyrimidine dehydrogenase deficiency
1989
Familial porencephalic white matter disease in two generations
1984
Immunohistochemical localization of acetylcholine receptors at human endplates using a monoclonal antibody.
1987
A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
1996