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19 results

  1. Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1509
    ... Fink, MD; University of Michigan (2000-2018) Peter Hedera, MD, PhD, FACMG (2018-present) Revision History 11 February 2021 (aa/ha/ph) Revision: added AD SPG30 and associated references; updated SPG1/MASA syndrome terminology information 27 September ...
  2. Spastic Paraplegia 3A - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK45978
    ... Genome Variation Society ( varnomen ​.hgvs.org ). See Quick Reference for an explanation of nomenclature. 1. Variant designation that does not conform to current naming conventions Chapter Notes Acknowledgments P Hedera is supported by NIH (NINDS) grant K02NS057666 Revision ...
  3. Hereditary Dystonia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1155
    ... Review Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Mole SE, ... Hedera P. GeneReviews(®). 1993 Integrative RNA profiling of TBEV- ...
  4. Hereditary Ataxia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1138
    ... Overview. [GeneReviews(®). 1993] Review Hereditary Spastic Paraplegia Overview. Hedera P. ... 1993] Review Leukodystrophy Overview – RETIRED CHAPTER, ...
  5. Laing Distal Myopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1433
    ... be considered in individuals with the following findings [ Hedera et al 2003 , Lamont et al 2006 , Lamont ... until the teenage years [ Zimprich et al 2000 , Hedera et al 2003 , Lamont et al 2006 ]. In ...
  6. Excluded studies - Parkinson’s disease in adults: diagnosis and management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK535861
    ... G., Salomon, R.M., Kao, C., Wang, L., Hedera, P., Phibbs, F.T., Neimat, J.S., Konrad, ... Tramontana, M.G., Salomon, R.M., Wang, L., Hedera, P., Phibbs, F.T., Neimat, J.S., Konrad, ...
  7. Spastic Paraplegia 8 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1827
    ... cord as determined by cross-sectional area measurements [ Hedera et al 1999 ]. Other studies. Normal: Cerebrospinal fluid ... 15 were wheelchair bound by age 40 years [ Hedera et al 1999 ]. In another large family, six ...
  8. Autosomal Dominant Epilepsy with Auditory Features - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1537
    ... Winawer et al 2002 , Michelucci et al 2003 , Hedera et al 2004 , Ottman et al 2004 , Michelucci ... Michelucci et al 2003 , Pizzuti et al 2003 , Hedera et al 2004 , Ottman et al 2004 , Pisano ...
  9. DYT-GNAL - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK535640
    ... Perlmutter JS, Wright LJ, Jinnah HA, Rosen AR, Hedera P, Comella CL, Weissbach A, Junker J, Jankovic ... RJ, van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, ...
  10. Pediatric Genetic Cholestatic Liver Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584020
    ... Overview. [GeneReviews(®). 1993] Review Hereditary Spastic Paraplegia Overview. Hedera P. GeneReviews(®). 1993 See reviews... See all... Recent ...
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