Adria L Bodell: Influence Statistics

Adria L Bodell

Adria L Bodell

Department of Medicine, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA | Department of Neurology, Beth Israel Deaconess Medical Center, Harvard ...

Adria L Bodell: Expert Impact

Concepts for which Adria L Bodell has direct influence: Periventricular heterotopia , West syndrome , Joubert syndrome , Congenital hypomyelination , Axonal decussation , Primary microcephaly , Autosomal recessive .

Adria L Bodell: KOL impact

Concepts related to the work of other authors for which for which Adria L Bodell has influence: Cortical development , Joubert syndrome , Intellectual disability , Neuronal migration , Myelin protein , Cerebral cortex , Autism spectrum disorders .

KOL Resume for Adria L Bodell

Year
2012

Department of Medicine, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA

2009

Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA

2008

Department of Neurology and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.

2007

Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts

From Beth Israel Deaconess Medical Center and Harvard Medical School (B.S.C., K.A.A., A.B., D.H., D.A.), Boston, MA; University of Haifa (T.K.), Haifa, Israel; Brigham and Women's Hospital and Harvard Center for Neurodegeneration and Repair (T.L., S.W.), Boston; Harvard Graduate School of Education (K.C.), Cambridge, MA; Center for Reading and Language Research (M.B.), Tufts University, Medford, MA; and Children's Hospital Boston (C.A.W.), Harvard Medical School, Howard Hughes Medical Institute.

2006

Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA

Division of Genetics, Children's Hospital Boston, Boston, Massachusetts

2005

Howard Hughes Medical Institute and Department of Neurology Beth Israel Deaconess Medical Center, Boston, Massachusetts

Molecular Medicine Unit and Department of Clinical Genetics, University of Leeds, St. James’s University Hospital, Leeds LS9 7TF, UK

Department of Pediatrics, King Fahad National Guard Hospital, Riyadh 11426, Kingdom of Saudi Arabia

2004

Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.

2003

Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, 02115, Boston, Massachusetts, USA

1996

Department of Genetics (San Jose), Kaiser Permanente Care Program of Northern California, 206 International Circle, San Jose, California 95119, USA

1994

Genetics Department, Kaiser Permanente, San Jose, California

Prominent publications by Adria L Bodell

KOL-Index: 14668 . Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding ...
Known for Periventricular Heterotopia | Phenotypic Heterogeneity | Flna Mutations | Bilateral Pnh
KOL-Index: 12279 . Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndrome (DSS), and congenital hypomyelination (CH). The clinical classification of these neuropathies into discrete categories can sometimes be difficult ...
Known for Congenital Hypomyelination | Clinical Phenotypes | Mutations Mpz | Tooth Type
KOL-Index: 11968 . BACKGROUND: Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1-6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has been excluded from the ascertainment of MCPH. Here, we report a pedigree with multiple ...
Known for Primary Microcephaly | Aspm Mutations | Mutational Analysis | Mcph5 Locus
KOL-Index: 10445 . Disruption of human neural precursor proliferation can give rise to a small brain (microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of cerebral cortical neurons in proliferative zones near the lateral ventricles (periventricular heterotopia). Here we show that an autosomal recessive condition characterized by microcephaly and periventricular ...
Known for Vesicle Trafficking | Cerebral Cortex | Cell Proliferation | Periventricular Heterotopia
KOL-Index: 10350 . Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles1,2,3,4,5,6,7,8,9. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' ...
Known for Joubert Syndrome | Axonal Decussation | Abnormal Cerebellar Development | Corticospinal Tract
KOL-Index: 10246 . Maintenance of DNA integrity is crucial for all cell types, but neurons are particularly sensitive to mutations in DNA repair genes, which lead to both abnormal development and neurodegeneration. We describe a previously unknown autosomal recessive disease characterized by microcephaly, early-onset, intractable seizures and developmental delay (denoted MCSZ). Using genome-wide linkage ...
Known for Dna Repair | Mutations Pnkp | Severe Seizures | Polynucleotide Kinase
KOL-Index: 9802 . Walker-Warburg syndrome (WWS) is an autosomal recessive disorder of infancy characterized by hydrocephalus, agyria, retinal dysplasia, congenital muscular dystrophy, and over migration of neurons through a disrupted pial surface resulting in leptomeningeal heterotopia. Although previous work identified mutations in the o-mannosyl transferase, POMT1, in 6 out of 30 WWS families ...
Known for Pomt1 Mutations | Syndrome Wws | Leptomeningeal Heterotopia | Congenital Muscular Dystrophy
KOL-Index: 8359 . Polymicrogyria is a common malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination. Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to a ...
Known for Frontoparietal Polymicrogyria | Preschool Chromosomes | Bfpp Syndrome | Mutational Analysis
KOL-Index: 7684 . To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of ...
Known for Autism Loci | Shared Ancestry | Disease Homozygote Humans | Recessive Genetic Predisposition
KOL-Index: 7339 . BACKGROUND: Multiple lines of evidence have suggested that developmental dyslexia may be associated with abnormalities of neuronal migration or axonal connectivity. In patients with periventricular nodular heterotopia--a rare genetic brain malformation characterized by misplaced nodules of gray matter along the lateral ventricles--a specific and unexpected reading disability is present, ...
Known for White Matter | Developmental Dyslexia | Brain Malformations | Reading Fluency
KOL-Index: 7172 . Although autosomal genes are increasingly recognized as important causes of intellectual disability, very few of them are known. We identified a genetic locus for autosomal-recessive nonsyndromic intellectual disability associated with variable postnatal microcephaly through homozygosity mapping of a consanguineous Israeli Arab family. Sequence analysis of genes in the candidate interval ...
Known for Postnatal Microcephaly | Intellectual Disability | Truncating Mutation | Developmental Genes
KOL-Index: 6816 . Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not been identified. Using microsatellite and single nucleotide polymorphism (SNP) markers, we ...
Known for 1q Deletion | Human Pair | Critical Region | Corpus Callosum
KOL-Index: 6790 . OBJECTIVE: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. BACKGROUND: PCH is a heterogeneous group of disorders that are characterized by abnormally small cerebellum and brainstem. Autosomal recessive inheritance has been implied in many cases, but no genetic loci have been mapped to date. METHODS: The authors studied a consanguineous family from ...
Known for Pontocerebellar Hypoplasia | Progressive Microcephaly | Optic Atrophy | Form Pch
KOL-Index: 6383 . Periventricular heterotopia (PH) represents a neuronal migration disorder that results in gray matter nodules along the lateral ventricles beneath an otherwise normal appearing cortex. While prior reports have shown that mutations in the filamin A (FLNA) gene can cause X-linked dominant PH, an increasing number of studies suggest the existence of additional PH syndromes. Further ...
Known for Periventricular Heterotopia | Situ Hybridization | Flna Mutation | Lateral Ventricles
KOL-Index: 6287 . OBJECTIVE: To define the behavioral profile of periventricular nodular heterotopia (PNH), a malformation of cortical development that is associated with seizures but reportedly normal intelligence, and to correlate the results with anatomic and clinical features of this disorder. METHODS: Ten consecutive subjects with PNH, all with epilepsy and at least two periventricular nodules, were ...
Known for Nodular Heterotopia | Normal Intelligence | Neuronal Migration | Reading Impairment

Key People For Periventricular Heterotopia

Top KOLs in the world
#1
William B Dobyns
cortical development corpus callosum intellectual disability
#2
Christopher A Walsh
cerebral cortex neuronal migration somatic mutations
#3
Renzo Guerrini
dravet syndrome cortical development epilepsy surgery
#4
Ingrid Eileen Scheffer
dravet syndrome febrile seizures intellectual disability
#5
Samuel Frank Berkovic
febrile seizures hippocampal sclerosis generalized epilepsy
#6
Peter R Huttenlocher
cerebral cortex tuberous sclerosis neuronal activity

Department of Medicine, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA | Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA | Howard Hughes Medical Institute, Beth Is