A Diagnostic Approach for Cerebral Palsy in the Genomic Era

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

Pelizaeus-Merzbacher Disease, Easily Misdiagnosed as Cerebral Palsy: A Report of a Three-generation Family

(2013) Yen-Chun Chen et al.   Pediatrics and Neonatology

Disease-Causing Mitochondrial Heteroplasmy Segregated Within Induced Pluripotent Stem Cell Clones Derived from a Patient with MELAS

(2013) Clifford D.L. Folmes et al.   STEM CELLS

Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease

(2012) Y. Lv et al.   GENETICS AND MOLECULAR RESEARCH

Normal Imaging in Patients with Cerebral Palsy: What Does It Tell Us?

(2012) Ruba Benini et al.   JOURNAL OF PEDIATRICS

Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

(2012) Judy S. Liu et al.   MOLECULAR CELL

Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet

(2012) Gesine Saher et al.   NATURE MEDICINE

Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency

(2012) Nathan T. Zwagerman et al.   NEUROSURGERY

Neuroimaging in Mitochondrial Disorders

(2012) Andrea L. Gropman   Neurotherapeutics

Neural Stem Cell Engraftment and Myelination in the Human Brain

(2012) N. Gupta et al.   Science Translational Medicine

Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency

(2012) W.-L. Hwu et al.   Science Translational Medicine

Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders

(2012) Grace Hobson et al.   SEMINARS IN NEUROLOGY

The Effect of Bilateral Globus Pallidus Internus Deep Brain Stimulation plus Ventralis Oralis Thalamotomy on Patients with Cerebral Palsy

(2012) Joo Pyung Kim et al.   STEREOTACTIC AND FUNCTIONAL NEUROSURGERY

Neurodegeneration With Brain Iron Accumulation: A Diagnostic Algorithm

(2012) Michael C. Kruer et al.   Seminars in Pediatric Neurology

The Long and the Short of it: Gene and Environment Interactions During Early Cortical Development and Consequences for Long-Term Neurological Disease

(2012) Helen Stolp et al.   Frontiers in Psychiatry

Treatment of secondary dystonia with a combined stereotactic procedure: long-term surgical outcomes

(2011) Joo Pyung Kim et al.   ACTA NEUROCHIRURGICA

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

(2011) Jennifer Friedman et al.   ANNALS OF NEUROLOGY

Molecular Genetics of Neuronal Migration Disorders

(2011) Judy S. Liu   Current Neurology and Neuroscience Reports

Whole exome and whole genome sequencing

(2011) David Bick et al.   CURRENT OPINION IN PEDIATRICS

Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders?

(2011) JANE M LEONARD et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Metabolic testing in children with cerebral palsy: less doing and more thinking?

(2011) FLORIAN HEINEN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Function and neuroimaging in cerebral palsy: a population-based study

(2011) KATE HIMMELMANN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment

(2011) Amnon Zung et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease

(2011) Hiroshi Yagasaki et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Clinical Clues to Differentiating Inherited and Noninherited Etiologies of Childhood Ataxias

(2011) Ruba Benini et al.   JOURNAL OF PEDIATRICS

Dystonia due to cerebral palsy responds to deep brain stimulation of the globus pallidus internus

(2011) Warren A. Marks et al.   MOVEMENT DISORDERS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Management of children with holoprosencephaly

(2010) Eric B. Levey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Epidemiology of holoprosencephaly: Prevalence and risk factors

(2010) Iêda M. Orioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

(2010) W. G. Leen et al.   BRAIN

Genetic Aspects of Cerebral Palsy

(2010) Imelda Hughes et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Population-based study of neuroimaging findings in children with cerebral palsy

(2010) Kayle Towsley et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical and genetic aspects of Angelman syndrome

(2010) Charles A Williams et al.   GENETICS IN MEDICINE

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

(2010) Jill A. Rosenfeld et al.   HUMAN GENETICS

Successful bilateral deep brain stimulation of the globus pallidus internus for persistent status dystonicus and generalized chorea

(2010) Diana Apetauerova et al.   JOURNAL OF NEUROSURGERY

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Genetics and phenomics of thyroid hormone transport by MCT8

(2010) Edith C.H. Friesema et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A Phase I Study of Aromatic L-Amino Acid Decarboxylase Gene Therapy for Parkinson's Disease

(2010) Shin-ichi Muramatsu et al.   MOLECULAR THERAPY

Potential Neuronal Repair in Cerebral White Matter Injury in the Human Neonate

(2010) Robin L Haynes et al.   PEDIATRIC RESEARCH

Movement Disorders II: Chorea, Dystonia, Myoclonus, and Tremor

(2010) J. W. Mink et al.   PEDIATRICS IN REVIEW

Severe Intraventricular Hemorrhage in Preterm Infants: Comparison of Risk Factors and Short-Term Neonatal Morbidities between Grade 3 and Grade 4 Intraventricular Hemorrhage

(2009) Subrata Sarkar et al.   AMERICAN JOURNAL OF PERINATOLOGY

Dyskinetic cerebral palsy in Europe: trends in prevalence and severity

(2009) K Himmelmann et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Cerebral palsy update

(2009) Ingeborg Krägeloh-Mann et al.   BRAIN & DEVELOPMENT

Is cerebral palsy preventable?

(2009) Karin B Nelson et al.   CURRENT OPINION IN NEUROLOGY

Sensory and motor deficits in children with cerebral palsy born preterm correlate with diffusion tensor imaging abnormalities in thalamocortical pathways

(2009) ALEXANDER H HOON JR et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Congenital anomalies in children with cerebral palsy: a population-based record linkage study

(2009) JUDITH RANKIN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study

(2009) Marie Vidailhet et al.   LANCET NEUROLOGY

Comorbidities in cerebral palsy and their relationship to neurologic subtype and GMFCS level

(2009) M. I. Shevell et al.   NEUROLOGY

Safety and tolerability of putaminal AADC gene therapy for Parkinson disease

(2009) C. W. Christine et al.   NEUROLOGY

Advances in Perinatal Ischemic Stroke

(2009) Adam Kirton et al.   PEDIATRIC NEUROLOGY

Neuronal migration disorders: clinical, neuroradiologic and genetics aspects

(2008) Alberto Spalice et al.   ACTA PAEDIATRICA

Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors

(2008) Robin L. Bennett et al.   Journal of Genetic Counseling

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence of Cerebral Palsy in 8-Year-Old Children in Three Areas of the United States in 2002: A Multisite Collaboration

(2008) M. Yeargin-Allsopp et al.   PEDIATRICS

Cerebral palsy in Norway: Prevalence, subtypes and severity

(2007) Guro L. Andersen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY