58 Publications (Page 3 of 3)
1995
Girl with signs of Pelizaeus‐Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene
Hodes, M. E⋅Demyer, William E⋅Pratt, Victoria M⋅Edwards, Mary K and Dlouhy, Stephen R
American Journal of Medical Genetics, vol. 55, (no. 4), pp. 401, 13 February 1995. | Journal Article
 
In‐frame deletion in the proteolipid protein gene of a family with Pelizaeus‐Merzbacher disease
Kleindorfer, Dawn O⋅Kleindorfer, Dawn Olson⋅Dlouhy, Stephen R⋅Dlouhy, S R⋅Pratt, Victoria M⋅Pratt, V M⋅Jones, M C⋅Jones, Marylin C⋅Trofatter, James⋅Trofatter, James A⋅Hodes, M. E and Hodes, M E
American Journal of Medical Genetics, vol. 55, (no. 4), pp. 407, 13 February 1995. | Journal Article
 
Pelizaeus‐Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene
Pratt, Victoria M⋅Dlouhy, Stephen R and Hodes, M. E
Clinical Genetics, vol. 47, (no. 2), pp. 100, February 1995. | Journal Article
 
Pelizaeus‐Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great‐grandfather of the propositus
Pratt, Victoria M⋅Boyadjiev, Simon⋅Green, Kathryn⋅Hodes, M. E and Dlouhy, Stephen R
American Journal of Medical Genetics, vol. 58, (no. 1), pp. 73, 31 July 1995. | Journal Article
 
Pelizaeus‐Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene
Pratt, V M⋅Pratt, Victoria M⋅Boyadjiev, S⋅Boyadjiev, Simon⋅Dlouhy, S R⋅Dlouhy, Stephen R⋅Silver, Kenneth⋅Silver, Kenneth⋅Der Kaloustian, Vazken M⋅Kaloustian, Vazken M. Der⋅Hodes, M E and Hodes, M. E
American Journal of Medical Genetics, vol. 55, (no. 4), pp. 404, 13 February 1995. | Journal Article
1993
Genetics of Pelizaeus-Merzbacher Disease
Hodes, M.E⋅Pratt, Victoria M and Dlouhy, Stephen R
Developmental Neuroscience, vol. 15, (no. 6), pp. 394, 19930000. | Journal Article
1992
New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus‐merzbacher disease
Pratt, V M⋅Pratt, Victoria M⋅Trofatter, James⋅Trofatter, James A⋅Larsen, M B⋅Larsen, Marianne B⋅Hodes, M. E⋅Hodes, M E⋅Dlouhy, S R and Dlouhy, Stephen R
American Journal of Medical Genetics, vol. 43, (no. 3), pp. 646, 1 June 1992. | Journal Article
1991
A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus‐merzbacher disease
Pratt, V M⋅Pratt, Victoria M⋅Trofatter, James⋅Trofatter, James A⋅Schinzel, A⋅Schinzel, Albert⋅Dlouhy, S R⋅Dlouhy, S. R⋅Conneally, P M⋅Conneally, P. M⋅Hodes, M E and Hodes, M. E
American Journal of Medical Genetics, vol. 38, (no. 1), pp. 139, 1 January 1991. | Journal Article