Citation Impact
Citing Papers
A Neuroligin-3 Mutation Implicated in Autism Increases Inhibitory Synaptic Transmission in Mice
2007 StandoutScienceNobel
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia
2017
A 3-Mb Map of a Large Segmental Duplication Overlapping the α7-Nicotinic Acetylcholine Receptor Gene (CHRNA7) at Human 15q13–q14
2002
Do Seizures Beget Seizures? An Assessment of the Clinical Evidence in Humans
1997
MDR1 Gene Expression in Brain of Patients with Medically Intractable Epilepsy
1995
Proton magnetic resonance spectroscopy in children with temporal lobe epilepsy
1996
The Tuberous Sclerosis Complex
2006 Standout
Tuberous Sclerosis and Multiple Tubers: Localizing the Epileptogenic Zone
2004
Early Identification of Refractory Epilepsy
2000 Standout
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Vitamin B12 and the Risk of Neural Tube Defects in a Folic-Acid-Fortified Population
2007
Diffusion-Weighted Magnetic Resonance Imaging and Identification of the Epileptogenic Tuber in Patients With Tuberous Sclerosis
2003
Inhibitors of Protein Tyrosine Phosphatases: Next‐Generation Drugs?
2005
Huntington's disease
2007 Standout
Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses?
1992
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
1992
Perfusion Network Shift during Seizures in Medial Temporal Lobe Epilepsy
2013
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
Malignant astrocytic glioma: genetics, biology, and paths to treatment
2007 Standout
CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology
2008
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
2003 Standout
The Science of Stroke: Mechanisms in Search of Treatments
2010 Standout
Biological markers of intellectual disability in tuberous sclerosis
2007
Familial and Personal Medical History of Cancer and Nervous System Conditions among Adults with Glioma and Controls
1997
Coordinated Transcription of Key Pathways in the Mouse by the Circadian Clock
2002 Standout
mTOR at the nexus of nutrition, growth, ageing and disease
2020 Standout
Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers
2001
Distinct Genetic Influences on Cortical Surface Area and Cortical Thickness
2009
Physical Trauma and Family History of Neurodegenerative Diseases in Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study
1999
Symbiosis between in vivo and in vitro NMR spectroscopy: The creatine, N-acetylaspartate, glutamate, and GABA content of the epileptic human brain
1995
TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
2003 Standout
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
1996
Patches of Disorganization in the Neocortex of Children with Autism
2014 Standout
Maternal and child undernutrition: global and regional exposures and health consequences
2008 Standout
FreeSurfer
2012 Standout
Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters
2005 StandoutNature
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
1998
Febrile seizures and hippocampal sclerosis: Frequent and related findings in intractable temporal lobe epilepsy of childhood
1995
Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development
1996
Epidemiology of Brain Tumors
2007
Epilepsy Surgery in Tuberous Sclerosis: A Systematic Review
2007
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy
2000
Tuberous sclerosis
2008 Standout
Malignant Gliomas in Adults
2008 Standout
BrainNet Viewer: A Network Visualization Tool for Human Brain Connectomics
2013 Standout
Impaired Spatial Representation in CA1 after Lesion of Direct Input from Entorhinal Cortex
2008 StandoutNobel
Consistent Localization of Interictal Epileptiform Activity on EEGs of Patients with Tuberous Sclerosis Complex
2005
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13
1994
MR-based in vivo hippocampal volumetrics: 2. Findings in neuropsychiatric disorders
2004
Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study
1997
Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox geneHox-#150;1.6
1992 StandoutNatureNobel
Fragile X syndrome and autism at the intersection of genetic and neural networks
2006
Functional organization of the hippocampal longitudinal axis
2014 StandoutNobel
Foetal malformations and seizure control: 52 months data of the Australian Pregnancy Registry
2006
Hippocampal Cell Distributions in Temporal Lobe Epilepsy: A Comparison Between Patients With and Without an Early Risk Factor
1996
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
Identification of the Epileptogenic Tuber in Patients with Tuberous Sclerosis: A Comparison of High‐resolution EEG and MEG
2006
The biopsychosocial approach to chronic pain: Scientific advances and future directions.
2007 Standout
Surgery for Seizures
1996 Standout
The Relative Contributions of MRI, SPECT, and PET Imaging in Epilepsy
1994
Sensors and regulators of intracellular pH
2009 Standout
Prenatal Valproate Exposure and Risk of Autism Spectrum Disorders and Childhood Autism
2013 Standout
Protein Tyrosine Phosphatases in the Human Genome
2004 Standout
A shortcut to the lysosome: The mannose-6-phosphate-independent pathway
2012
The spectrum of hippocampal sclerosis: A quantitative magnetic resonance imaging study
1997
doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein
1998
CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*
2001
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
1996
Defective Brain Energy Metabolism Shown by in vivo 31P MR Spectroscopy in 28 Patients with Mitochondrial Cytopathies
1993
Neuronal migration disorders: from genetic diseases to developmental mechanisms
2000
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
2011
Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1
1995
Spinocerebellar Ataxia Type 2
2018
Epileptogenesis and Reduced Inward Rectifier Potassium Current in Tuberous Sclerosis Complex‐1–Deficient Astrocytes
2005
Lysosome-targeting chimaeras for degradation of extracellular proteins
2020 StandoutNatureNobel
MRI-based hippocampal volumetrics: Data acquisition, normal ranges, and optimal protocol
1995
CA3 axonal sprouting in kainate-induced chronic epilepsy
2005
Amyotrophic Lateral Sclerosis
2001 Standout
A Unique Carbohydrate Binding Domain Targets the Lafora Disease Phosphatase to Glycogen
2002
CD11c/EYFP transgene illuminates a discrete network of dendritic cells within the embryonic, neonatal, adult, and injured mouse brain
2008 StandoutNobel
Epilepsy Surgery in Children with Tuberous Sclerosis Complex: Presurgical Evaluation and Outcome
2000
Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients
1998
GENETICS OF MIGRAINE
1997
Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice
1996 StandoutNature
Human disorders of cortical development: from past to present
2006
Lysosomal storage diseases
1995
An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest
2006 Standout
Brain Abnormalities in Tuberous Sclerosis Complex
2004
Oxidative damage and mitochondrial decay in aging.
1994 Standout
Update on Genetics of Stroke and Cerebrovascular Disease 2005
2006
Small GTP-Binding Proteins
2001 Standout
Topical Review: Intractable Seizures in Tuberous Sclerosis Complex: From Molecular Pathogenesis to the Rationale for Treatment
2005
Managing Epilepsy in Tuberous Sclerosis Complex
2004
Inhibitoren der Proteintyrosinphosphatasen: Kandidaten für zukünftige Wirkstoffe?
2005
CBTRUS Statistical Report: Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2006-2010
2013 Standout
Dentate Granule Cell Neurogenesis Is Increased by Seizures and Contributes to Aberrant Network Reorganization in the Adult Rat Hippocampus
1997 Standout
Visual Involvement in Friedreich's Ataxia and Hereditary Spastic Ataxia
1981
Mice with targeted disruption of Hoxb-1 fail to form the motor nucleus of the VIIth nerve
1996 StandoutNobel
Developmental outcome of epilepsy surgery in tuberous sclerosis complex
2005
Advances in Anatomy, Embryology and Cell Biology
1982
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration
2004
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
2016
Contemporary Definitions and Classification of the Cardiomyopathies
2006 Standout
Neurotransmitter Transporters in the Central Nervous System
1999
Navigation-related structural change in the hippocampi of taxi drivers
2000 Standout
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells
2006 StandoutNobel
Magnetic source imaging localizes epileptogenic zone in children with tuberous sclerosis complex
2006
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.
1997
CENTRAL NERVOUS SYSTEM NEURONAL MIGRATION
1999
Fluorosulfuryl Isocyanate Enabled SuFEx Ligation of Alcohols and Amines
2021 StandoutNobel
Evoked Potentials in Clinical Medicine
1982 Standout
Loss of Hox-A1 (Hox-1.6) function results in the reorganization of the murine hindbrain
1993 StandoutNobel
Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13.
1995
Classification and natural history of primary myocardial disease
1984
Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal
2012 StandoutNobel
Clinical features of Friedreich's ataxia: classical and atypical phenotypes
2013
Epilepsy Surgery for Children With Tuberous Sclerosis Complex
2004
Creatine and Creatinine Metabolism
2000 Standout
Works of E. Andermann being referenced
More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.
1990
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure
2009
MYOCLONUS EPILEPSY AND RAGGED-RED FIBRES (MERRF)
1989
Surgical treatment of epilepsy in tuberous sclerosis
1998
Atrophy of mesial structures in patients with temporal lobe epilepsy: Cause or consequence of repeated seizures?
1993
The mutation mechanism causing juvenile‐onset Tay‐Sachs disease among Lebanese
1989
Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12
1996
Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24
1998
Genetics of the polymicrogyria syndromes
2005
X-linked malformations of neuronal migration
1996
Association Between Alzheimer Disease and Amyotrophic Lateral Sclerosis?
1990
A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French‐Canadian population
2013
Oculomotor Abnormalities in Friedreich's Ataxia
1979
Genetic and Family Studies in Friedreich's Ataxia
1976
Mutation spectrum and predicted function of laforin in Lafora’s progressive myoclonus epilepsy
2000
Migraine and epilepsy, with special reference to the benign epilepsies of childhood.
1992
Benign familial nocturnal alternating hemiplegia of childhood
1994
CCM1 mutation screen of sporadic cases with cerebral cavernous malformations
2004
Mechanisms of teratogenesis: folic acid and antiepileptic therapy.
1992
Hippocampal atrophy and T2-weighted signal changes in familial mesial temporal lobe epilepsy
2003
Excitatory amino acids are elevated in human epileptic cerebral cortex
1988
Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.
1994
Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome
2004
Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.
1994
Early childhood prolonged febrile convulsions, atrophy and sclerosis of mesial structures, and temporal lobe epilepsy
1993
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy
2004
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
1991
The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.
1996
Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects. Clinical Teratology Committee, Canadian College of Medical Geneticists.
1993
Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology.
1986
Epilepsy and cortical cytoarchitectonic abnormalities: an attempt at correlating basic mechanisms with anatomoclinical syndromes.
1992