Prominent publications by Adria L Bodell

KOL Index score: 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 cytoplasmic phosphoprotein and is involved in early brain neurogenesis and neuronal migration. A rare, ...

के लिए जाना जाता है Periventricular Heterotopia |  phenotypic heterogeneity |  flna mutations |  bilateral pnh |  neuronal migration
KOL Index score: 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 because there can be both clinical and pathologic variation and overlap between these disorders. We have ...

के लिए जाना जाता है Congenital Hypomyelination |  clinical phenotypes |  mutations mpz |  tooth type |  male microscopy
KOL Index score: 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 affected individuals with microcephaly and seizures.

OBJECTIVE: To identify the gene responsible for ...

के लिए जाना जाता है Primary Microcephaly |  aspm mutations |  mutational analysis |  mcph5 locus |  microsatellite markers
KOL Index score: 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 heterotopia1 maps to chromosome 20 and is caused by mutations in the gene ADP-ribosylation factor guanine ...

के लिए जाना जाता है Vesicle Trafficking |  cerebral cortex |  cell proliferation |  periventricular heterotopia |  lateral ventricles
KOL Index score: 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' movements, and cognitive and behavioral disturbances5,6,7,8,10,11,12. Here we identified a locus ...

के लिए जाना जाता है Joubert Syndrome |  axonal decussation |  abnormal cerebellar development |  corticospinal tract |  multiple adaptor proteins
KOL Index score: 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 analysis in consanguineous families, we mapped the disease locus to chromosome 19q13.33 and identified ...

के लिए जाना जाता है Dna Repair |  mutations pnkp |  severe seizures |  polynucleotide kinase |  developmental delay
KOL Index score: 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 [Beltran-Valero de Bernabe et al., 2002], the incidence of POMT1 mutations in WWS is not known. We sequenced the ...

के लिए जाना जाता है Pomt1 Mutations |  syndrome wws |  leptomeningeal heterotopia |  congenital muscular dystrophy |  nonconsanguineous parents
KOL Index score: 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 locus on chromosome 16q12-21. Here, we extend our observations to include 19 patients from 10 kindreds, ...

के लिए जाना जाता है Frontoparietal Polymicrogyria |  preschool chromosomes |  bfpp syndrome |  mutational analysis |  cortical development
KOL Index score: 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 expression changes in response to neuronal activity, a marker of genes involved in synaptic changes ...

के लिए जाना जाता है Autism Loci |  shared ancestry |  disease homozygote humans |  recessive genetic predisposition |  inherited factors
KOL Index score: 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, despite normal intelligence. We sought to investigate the cognitive and structural brain bases of this ...

के लिए जाना जाता है White Matter |  developmental dyslexia |  brain malformations |  reading fluency |  cortical development
KOL Index score: 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 identified a nonsense nucleotide change in the gene that encodes TRAPPC9 (trafficking protein ...

के लिए जाना जाता है Postnatal Microcephaly |  intellectual disability |  truncating mutation |  developmental genes |  postmitotic neurons
KOL Index score: 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 have mapped the deleted regions in seven patients with terminal deletions of chromosome 1q to define ...

के लिए जाना जाता है 1q Deletion |  human pair |  critical region |  corpus callosum |  psychomotor retardation
KOL Index score: 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 the Sultanate of Oman with three siblings with a novel form of PCH. The authors performed clinical ...

के लिए जाना जाता है Pontocerebellar Hypoplasia |  progressive microcephaly |  optic atrophy |  form pch |  short stature
KOL Index score: 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 classification of these cortical malformation syndromes associated with PH allows for determination of the ...

के लिए जाना जाता है Periventricular Heterotopia |  situ hybridization |  flna mutation |  lateral ventricles |  familial cases
KOL Index score: 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 studied with structural MRI and neuropsychological testing. Behavioral results were statistically ...

के लिए जाना जाता है Nodular Heterotopia |  normal intelligence |  neuronal migration |  reading impairment |  pnh epilepsy

के लिए प्रमुख लोग Periventricular Heterotopia

दुनिया में शीर्ष kols
William * ******
cortical development corpus callosum intellectual disability
Christopher * *****
cerebral cortex neuronal migration somatic mutations
Renzo ********
dravet syndrome cortical development epilepsy surgery
Ingrid ****** ********
dravet syndrome febrile seizures intellectual disability
Samuel ***** ********
febrile seizures hippocampal sclerosis generalized epilepsy
Peter * ************
cerebral cortex tuberous sclerosis neuronal activity

Adria L Bodell:विशेषज्ञ प्रभाव

जिसके लिए अवधारणाएंAdria L Bodellप्रत्यक्ष प्रभाव है:Periventricular heterotopia,  West syndrome,  Joubert syndrome,  Congenital hypomyelination,  Axonal decussation,  Primary microcephaly,  Autosomal recessive,  Aspm mutations.

Adria L Bodell:कोल इम्पैक्ट

अन्य लेखकों के काम से संबंधित अवधारणाएं जिनके लिएfor which Adria L Bodell प्रभाव है:Cortical development,  Joubert syndrome,  Intellectual disability,  Neuronal migration,  Myelin protein,  Cerebral cortex,  Autism spectrum disorders.



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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