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  1. Article ; Online: Tuberous sclerosis complex: molecular pathogenesis and animal models.

    Piedimonte, Leandro R / Wailes, Ian K / Weiner, Howard L

    publication RETRACTED

    Neurosurgical focus

    2006  Volume 20, Issue 1, Page(s) E4

    Abstract: Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hamartin and tuberin, which form a functional signaling complex. Disruption of these genes in the brain ... ...

    Abstract Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hamartin and tuberin, which form a functional signaling complex. Disruption of these genes in the brain results in abnormal cellular differentiation, migration, and proliferation, giving rise to the characteristic brain lesions of tuberous sclerosis complex (TSC) called cortical tubers. The most devastating complications of TSC affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Relevant animal models, including conventional and conditional knockout mice, are valuable tools for studying the normal functions of tuberin and hamartin and the way in which disruption of their expression gives rise to the variety of clinical features that characterize TSC. In the future, these animals will be invaluable preclinical models for the development of highly specific and efficacious treatments for children affected with TSC.
    MeSH term(s) Animals ; Disease Models, Animal ; Humans ; Models, Biological ; Mutation ; Tuberous Sclerosis/etiology ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis/metabolism ; Tuberous Sclerosis Complex 1 Protein ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins/genetics
    Chemical Substances TSC1 protein, human ; TSC2 protein, human ; Tsc1 protein, mouse ; Tsc2 protein, mouse ; Tuberous Sclerosis Complex 1 Protein ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins
    Language English
    Publishing date 2006-01-15
    Publishing country United States
    Document type Journal Article ; Review ; Retracted Publication
    ZDB-ID 2026589-X
    ISSN 1092-0684 ; 1092-0684
    ISSN (online) 1092-0684
    ISSN 1092-0684
    DOI 10.3171/foc.2006.20.1.5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Medulloblastoma: mouse models and novel targeted therapies based on the Sonic hedgehog pathway.

    Piedimonte, Leandro R / Wailes, Ian K / Weiner, Howard L

    Neurosurgical focus

    2005  Volume 19, Issue 5, Page(s) E8

    Abstract: Understanding molecular pathways, signaling cascades, and genetic alterations activated during tumorigenesis is essential for the development of targeted cancer treatments. In children, tumors of the central nervous system are thought to arise from ... ...

    Abstract Understanding molecular pathways, signaling cascades, and genetic alterations activated during tumorigenesis is essential for the development of targeted cancer treatments. In children, tumors of the central nervous system are thought to arise from progenitor cells that show considerable temporal and spatial heterogeneity in a developmental environment that is different from that of the adult. Investigating the molecular basis of pediatric tumors is critical because it is likely to generate novel treatments. Animal models have brought many important advances in this field. In this review the authors discuss the mouse models based on the Sonic hedgehog pathway, which have provided a better knowledge of the genetic and molecular alterations of medulloblastoma.
    MeSH term(s) Animals ; Cerebellar Neoplasms/genetics ; Cerebellar Neoplasms/metabolism ; Cerebellar Neoplasms/therapy ; Disease Models, Animal ; Gene Targeting/methods ; Hedgehog Proteins ; Medulloblastoma/genetics ; Medulloblastoma/metabolism ; Medulloblastoma/therapy ; Mice ; Signal Transduction/genetics ; Trans-Activators/genetics ; Trans-Activators/physiology
    Chemical Substances Hedgehog Proteins ; Shh protein, mouse ; Trans-Activators
    Language English
    Publishing date 2005-11-15
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 2026589-X
    ISSN 1092-0684 ; 1092-0684
    ISSN (online) 1092-0684
    ISSN 1092-0684
    DOI 10.3171/foc.2005.19.5.9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Anatomical and Anatomo–Radiological Basis of the Chronic Stimulation of the Sphenopalatine Ganglion for the Treatment of Cluster Headaches

    Piedimonte, Fabián / Larrarte, Guillermo Agustín / Andreani, Juan Carlos / Piedimonte, Leandro / Graff, Pablo / Barbosa, Nicolás / Azar Schreiner, Denise R.

    Revista Argentina de Anatomia Online, Vol 3, Iss 4, Pp 101-

    2012  Volume 108

    Abstract: The objective is to establish the anatomical relations and the characteristics of involved structures in relation with the pterygopalatine ganglion (sphenopalatine ganglion) in order to justify the different aspects of the tactics and techniques facing ... ...

    Abstract The objective is to establish the anatomical relations and the characteristics of involved structures in relation with the pterygopalatine ganglion (sphenopalatine ganglion) in order to justify the different aspects of the tactics and techniques facing the therapeutics of the painful syndromes of neurovegetative origin in the deep region of pterygopalatine fossa. Data base information, cadaveric material and also radiological studies during the interventions of sphenopalatal stimulation were used to establish the parameters needed to guarantee that the pterygopalatine ganglion (sphenopalatine ganglion) is included in the electrical field. The anatomical studies infer that electrodes placement in the more exact area defines the localization of the sphenopalatal ganglion and its branches presented better results in pain control of the treated patients. We have tried to document the anatomical basis that support the surgical technique for the treatment of cluster headache syndrome (justifying neurovegetative manifestations with nocturnal aggravation).
    Keywords pterygopalatine ganglion (sphenopalatine ganglion ) ; Cluster Headaches ; Chronic Stimulation ; Treatment ; Human anatomy ; QM1-695 ; Science ; Q ; DOAJ:Anatomy ; DOAJ:Biology ; DOAJ:Biology and Life Sciences
    Language Spanish
    Publishing date 2012-12-01T00:00:00Z
    Publisher Asociacion Argentina de Anatomia
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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