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PHASE II TRIAL OF PIRFENIDONE IN ADULTS WITH NEUROFIBROMATOSIS TYPE 1

  • Results from the open-label phase II trial of oral pirfenidone in 24 patients with neurofibromatosis type 1.
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NF RESEARCH YIELDS CLUES TO BIOLOGICAL CAUSE OF LEARNING DISABILITIES AND POSSIBLE TREATMENT

  • A team of scientists from the University of California report that they have found a treatment for the learning deficits in a mouse model for Neurofibromatosis type I (NF1), a disorder that affects one in 4000 people world-wide.
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THE CONNECTION BETWEEN ALZHEIMER'S AND NEUROFIBROMATOSIS

  • The protein shared by Neurofibromatosis and Alzheimer's disease is kinesin-1 known to be pivotal to protein trafficking, which is the movement of various needed proteins from one part of a cell to another.
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OLIGODENDROCYTE MYELIN GLYCOPROTEIN (OMGP) GENE POLYMORPHISM IN NF1 PATIENTS WITH LEARNING DISABILITY

  • Tests were carried out on groups consisting of NF 1 patients with and without learning disability and a group of healthy controls. The tests involved the search for differences in one element of the OMGP protein amongst the different groups. No statistical differences were found.
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 ROLE OF OLIGODENDROCYTE MYELIN GLYCOPROTEIN (OMGP) IN LEARNING DISABILITIES ASSOCIATED WITH NF 1

  • The OMGP gene has been suggested as a candidate for learning disabilities associated with NF 1. The work provided some supporting data for the gene to be a modifier for Learning Disabilities.
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NF 1 IN ADULTS, A DAILY CHALLENGE

  • A discussion of the work done by Frambu, the Norwegian national center for rare disorders and disabilities. NF 1 represents the largest group of individuals diagnosed and attending at the center.
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GENETIC COUNSELING IN NEUROFIBROMATOSIS TYPE 1: A DIFFICULT BALANCE

  • A discussion of the issues around counseling on clinical diagnosis, recurrence risk, communicating with the family about recurrence and providing information about potential medical, economic, psychological and social burdens in NF 1.
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COLLABORATION AMONG NF LAY GROUPS AND PROFESSIONALS IN EUROPE

  • The European Commission has provided funding to allow NF voluntary organizations to expand the NF network in Europe, develop volunteer training programs and investigate medical and social needs of people affected by NF.
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NERVE SHEATH CONTRIBUTIONS TO NF 1 NEUROFIBROMAS AND NEUROFIBROSARCOMAS

  • Describes five different NFs and argues the differences are critical to understanding the origin of Neurofibrosarcomas both in humans and animal models.
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NEUROFIBROMATOSIS AND BONE

  • NF 1 gene has a role in bone development and remodeling which may be causative for thee skeletal alterations specific for NF 1.
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MOLECULAR ONCOGENESiS IN NEUROFIBROMATOSIS TYPE 1

  • Discusses different second hit mechanisms and results in neurofibromatomas from NF1 micro deleted individuals and non-micro deleted individuals.
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GERMAN NEUROFIBROMATOSIS LAY GROUP QUESTIONNAIRE PROJECT

  • Work that shows that lay groups are able to develop data on new aspects of the condition and on the quality of life of affected people.
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