Citation Impact
Citing Papers
2017 Standout
Guidelines for the Management of Spontaneous Intracerebral Hemorrhage
2015 Standout
Guidelines for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack
2014 Standout
Accelerated Evolution of Conserved Noncoding Sequences in Humans
2006 StandoutScienceNobel
Management of Stroke in Infants and Children
2008
Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy.
1993
Animal mitochondrial genomes
1999 Standout
Genetic and environmental risk factors for idiopathic inflammatory myopathies
2002
Role of Circadian Neuroendocrine Rhythms in the Control of Behavior and Physiology
2011
Myasthenia Gravis
2016 Standout
Hypocarbia and Adverse Outcome in Neonatal Hypoxic-Ischemic Encephalopathy
2010
Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies
2009 Standout
Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti‐N‐methyl‐d ‐aspartate receptor encephalitis
2009
Microglia-mediated neurotoxicity: uncovering the molecular mechanisms
2006 Standout
The T-box factor MLS-1 acts as a molecular switch during specification of nonstriated muscle in C. elegans
2002 StandoutNobel
Cysteine-Rich Domain Isoforms of the Neuregulin-1 Gene Are Required for Maintenance of Peripheral Synapses
2000
Vigabatrin and Epilepsy: Lessons Learned
2007
Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening
2000
The muscular dystrophies
2002 Standout
The ground state of embryonic stem cell self-renewal
2008 StandoutNature
Epidemiology of Parkinson's disease
2006 Standout
Complicating autoimmune diseases in myasthenia gravis: a review
2015
The transcription factor Sox10 is a key regulator of peripheral glial development
2001 Standout
A brief review on the history of human functional near-infrared spectroscopy (fNIRS) development and fields of application
2012 Standout
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
2011 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol
2011
REPuter: the manifold applications of repeat analysis on a genomic scale
2001 Standout
Dmdmdx-βgeo: A new allele for the mouse dystrophin gene
1998
Mitochondria: In Sickness and in Health
2012 Standout
Safety, ethical considerations, and application guidelines for the use of transcranial magnetic stimulation in clinical practice and research
2009 Standout
Clinical effectiveness, tolerability and cost-effectiveness of newer drugs for epilepsy in adults: a systematic review and economic evaluation
2005
Vigabatrin for tuberous sclerosis complex
2001
Juvenile macular dystrophy and forearm pronation‐supination restriction presenting with features of distal arthrogryposis type 5
2009
Drug repurposing: progress, challenges and recommendations
2018 Standout
Characteristics of epilepsy in focal cortical dysplasia in infancy
2002
Tuberous sclerosis
2008 Standout
Pediatric Horner Syndrome: Etiologies and Roles of Imaging and Urine Studies to Detect Neuroblastoma and Other Responsible Mass Lesions
2006
Identifying new antiepileptic drugs through genomics-based drug repurposing
2017
Progress report on new antiepileptic drugs: a summary of the Fifth Eilat Conference (EILAT V)
2001
Ongoing expression of Nkx2.1 in the postnatal mouse forebrain: Potential for understanding NKX2.1 haploinsufficiency in humans?
2009
Autism
2013 Standout
PROTAC targeted protein degraders: the past is prologue
2022 Standout
Warfarin versus aspirin for stroke prevention in an elderly community population with atrial fibrillation (the Birmingham Atrial Fibrillation Treatment of the Aged Study, BAFTA): a randomised controlled trial
2007 Standout
Neuroblastoma
2007 Standout
Recent developments in the molecular genetics of mitochondrial disorders
1998
Deficient Induction Response in a Xenopus Nucleocytoplasmic Hybrid
2011 StandoutNobel
Neuromyelitis optica spectrum disorders associated with other autoimmune diseases
2014
Deficiency of respiratory chain complex I is a common cause of leigh disease
1996
A review on continuous wave functional near-infrared spectroscopy and imaging instrumentation and methodology
2013 Standout
Pediatric Stroke Initiatives and Preliminary Studies: What Is Known and What Is Needed?
2006
Polymyositis and dermatomyositis
2003 Standout
MTM1 mutations in X-linked myotubular myopathy
2000
Moyamoya Disease and Moyamoya Syndrome
2009 Standout
Immunocytochemical analysis of human muscular dystrophy
2000
Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis
2010 Standout
Current role of vigabatrin in infantile spasms
2007
A Resource of Cre Driver Lines for Genetic Targeting of GABAergic Neurons in Cerebral Cortex
2011 Standout
MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification
2008 Standout
Occupational and environmental risk factors for Parkinson's disease
2002
Complementary and Alternative Medicine in Autism: An Evidence-Based Approach to Negotiating Safe and Efficacious Interventions with Families
2010
The consequences of nuclear transfer for mammalian foetal development and offspring survival. A mitochondrial DNA perspective
2004
Guidelines for the Early Management of Patients With Acute Ischemic Stroke
2013 Standout
In Vivo Imaging of Membrane-Associated Glycans in Developing Zebrafish
2008 StandoutScienceNobel
Magnesium in Man: Implications for Health and Disease
2014 Standout
Recognizing Syncope: Pitfalls and Surprises
1996
An α-syntrophin-dependent pool of AQP4 in astroglial end-feet confers bidirectional water flow between blood and brain
2003 StandoutNobel
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
2014
Guidelines for the Primary Prevention of Stroke
2014 Standout
Myasthenia gravis and risks for comorbidity
2014
Cooling for newborns with hypoxic ischaemic encephalopathy
2013 Standout
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle
2002
Diagnosis and Management of Cerebral Venous Thrombosis
2011 Standout
Hormones and Endocrine-Disrupting Chemicals: Low-Dose Effects and Nonmonotonic Dose Responses
2012 Standout
Conditional Deletion of Focal Adhesion Kinase Leads to Defects in Ventricular Septation and Outflow Tract Alignment
2007 StandoutNobel
Guidelines for the Management of Aneurysmal Subarachnoid Hemorrhage
2012 Standout
The Importance of Cerebral Aneurysms in Childhood Hemorrhagic Stroke
2008
Parkinsonism due to predominant involvement of substantia nigra in Japanese encephalitis
1999
Cellular and Molecular Regulation of Muscle Regeneration
2004 Standout
Topical Review: Vigabatrin in the Treatment of Infantile Spasms in Tuberous Sclerosis: Literature Review
1999
Delayed onset of brain edema and mislocalization of aquaporin-4 in dystrophin-null transgenic mice
2002 StandoutNobel
The STRING database in 2021: customizable protein–protein networks, and functional characterization of user-uploaded gene/measurement sets
2020 Standout
A Review of near Infrared Spectroscopy for Term and Preterm Newborns
2012
Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review
2006
Systematic reviews: CRD's guidance for undertaking reviews in health care
2010 Standout
Multiple Binding Modes of Inhibitors to Carbonic Anhydrases: How to Design Specific Drugs Targeting 15 Different Isoforms?
2012 Standout
Works of Richard Appleton being referenced
The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy
2012
Myotubular myopathy: morphological, immunohistochemical and clinical variation
1998
Clinical update: melatonin and sleep disorders
2008
Preserved Merosin M-Chain (or Laminin-α2) Expression in Skeletal Muscle Distinguishes Walker-Warburg Syndrome from Fukuyama Muscular Dystrophy and Merosin-Deficient Congenital Muscular Dystrophy
1995
Seizure‐related Injuries in Children with Newly Diagnosed and Untreated Epilepsy
2002
Gabapentin as Add‐On Therapy in Children with Refractory Partial Seizures: A 12‐Week, Multicentre, Double‐Blind, Placebo‐Controlled Study
1999
Genetic regulation of gene expression in the epileptic human hippocampus
2017
Vigabatrin in the management of generalized seizures in children
1995
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
2007
DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR DYSTROPHY
1995
Nemaline myopathy caused by absence of α‐skeletal muscle actin
2006
Randomised, Placebo‐Controlled Study of Vigabatrin as First‐Line Treatment of Infantile Spasms
1999
False diagnosis of epilepsy in children
1992
Identifying the biological pathways underlying human focal epilepsy: from complexity to coherence to centrality
2015
Dermatomyositis and Whipple's disease
2000
A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis‐ophthalmoplegia syndrome
2005
Systematic review of melatonin treatment in children with neurodevelopmental disabilities and sleep impairment
2004
Effect of carbon dioxide on background cerebral electrical activity and fractional oxygen extraction in very low birth weight infants just after birth
2005
Congenital Horner Syndrome Associated with Non‐cervical Neuroblastoma
1992
The treatment of convulsive status epilepticus in children
2000
A review of the current literature and a guide to the early diagnosis of autoimmune disorders associated with neuromyelitis optica
2014
Systematic review of melatonin treatment in children with neurodevelopmental disabilities and sleep impairment
2004
Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.
1994
Role of intravenous immunoglobulin in the treatment of acute relapses of neuromyelitis optica: experience in 10 patients
2013
Encephalitis Lethargica‐like Illness in a Five‐year‐old
1991
Stroke In Children
1996
A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.
1992
Cranial hemihypertrophy and neurodevelopmental prognosis.
1990