Center for Jewish Genetic Diseases
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Resources: References Bloom's Syndrome
Gennery AR, Cant AJ, Jeggo PA. Immunodeficiency Associated with DNA Repair Defects. Clin Exp Immunol. 2000 Jul; 121(1): 1-7. Mathur R, Chowdhury MR, Singh G. Recent Advances in Chromosome Breakage Syndromes and their Diagnosis. Indian Pediatr. 2000 June; 37(6): 615-25. Yankiwski V, Marciniak RA, Guarente L, Neff NF. Nuclear Structure in Normal and Bloom Syndrome Cells. Proc Natl Acad Sci USA. 2000 May 9; 97(10): 5214-9. Roa BB, Savino CV, Richards CS. Ashkenazi Jewish Population Frequency of the Bloom Syndrome Gene 2281 delta6ins7 Mutation. Genet Test. 1999;3(2): 219-221.
Li L, Eng C, Desnick RJ, German J, Ellis NA. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab 64(4):286-90, 1998.
Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urteger A, Groden J, Legum C. High Frequency of a Common Bloom Syndrome Ashkenazi Mutation Among Jews of Polish Origin. Genet Test. 1998; 2(4): 293-6.
Straughen JE, Johnson J, McLaren D, Proytcheva M, Ellis N, German J, Groden J. A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom’s syndrome gene. Hum Mutat 11:175-178, 1998.
Straughen J, Ciocci S, Ye TZ, Lennon DN, Proytcheva M, Alhadeff B, Goodfellow P, German J, Ellis NA, Groden J. Physical mapping of the Bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. Genomics 35(1):118-28, 1996.
German J, Roe AM, Leppert MF, Ellis NA. Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. Proc Natl Acad Sci USA 91(14):6669-73, 1994.
German J. Bloom's syndrome: A Mendelian prototype of somatic mutational disease. Medicine 172:393-406, 1993. Canavan Disease
Fink DJ. Gene Therapy for Canavan Disease? Ann Neurol. 2000 Jul;48(1):9-10.
Matalon, RM, Michals-Matalon, K. Spongy Degeneration of the Brain, Canavan Disease: Biochemical and Molecular Findings. Front Biosci. 2000 Mar 1;5:D307-11.
Acog Committee Opinion. Screening for Canavan Disease. Number 212, November1998. Committee on Genetics. American College of Obstetricians and Gynecologists. Int J Gynaecol Obstet. 1999 Apr;65(1):91-2. Matalon, R., Michals-Matalon K, Prenatal Diagnosis of Canavan Disease. Prenat Diagn. 1999 Jul; 19(7):669-70. Matalon, R., Michals-Matalon K., Recent Advances in Canavan Disease. Adv Pediatr. 1999; 46:493-506.
Traeger EC, Rapin I. The clinical course of Canavan disease. Pediatr Neurol 18(3):207-12, 1998.
Bennett MJ, Gibson KM, Sherwood WG, Divry P, Rolland MO, Elpeleg ON, Rinaldo P, Jakobs C. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis. J Inherit Metab Dis, 16(5):831-836, 1993. Kaul R, Ping Gao G, Balamurugan J, Matalon R. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nature Genet 5:118-123, 1993. Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29:463-471, 1988. Ungar M, Goodman RM. Spongy degeneration of the brain in Israel: A retrospective study. Clin Genet 23:23-29, 1983. Familial Dysautonomia Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Familial Dysautonomia: Detection of the IKBKAP IVS20 +T>C and R696P Mutations and Frequencies Among Ashkenazi Jews. Am J Med Genet. In Press. Anderson S, Coli R, Daly I, Kichula E, Rork M, Volpi S, Ekstein J, Rubin B. Familial dysautonomia is caused by mutations in the IKAP gene. Am J Hum Genet 68 (3):753-758, 2001. Gilbert F, Familial Dysautonomia and the Expansion of the Ashkenazi Jewish Carrier Screening Panel. Genet Test. 2001 Summer; 5(2): 83-5.
Slaugenhaupt S, Blumenfeld A, Gill S, Leyne M, Mull J, Caujungco M, Liebert C, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod F, Gusella J. Tissue-specific expression of splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 68:2001. Bar-On E, Floman Y, Sagiv S, Katz K, Pollak RD, Maayan C. Orthopedic Manifestations of Familial Dysautonomia. A Review of One Hundred and Thirty-Six Patients. J Bone Joint Surg Am. 2000 Nov; 82-A (11): 1563-70.
Hayek S, Laplaza FJ, Axelrod FB, Burke SW. Spinal Deformity in Familial Dysautonomia. Prevalance, and results of bracing. J Bone Joint Surge Am. 2000 Nov; 82-A (11): 1558-62. Maayan C, Sela O, Axelrod F, Kidron D, Hochner-Celnikier D. Gynecological Aspects of Female Familial Dysautonomia. Isr Med Assoc J. 2000 Sep; 2(9): 679-83.
Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF. Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31. Am J Hum Genet 64(4):1110-1118, 1999.
Axelrod FB. Familial dysautonomia: a 47-year perspective. How technology confirms clinical acumen. J Pediatr 132(3 Pt 2):S2-5, 1998. Axelrod FB, Glickstein JS, Weider J, Gluck MC, Friedman D. The effects of postural change and exercise on renal haemodynamics in familial dysautonomia. Clinical Autonomic Res 3:195-200, 1993.
Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan Ch, Lieberg CB, Ozweluis LJ, Trofatter JA, Haines JL, Breakefield XO, Gusella JF. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nature Genet 4: 160-164, 1993.
Axelrod FB, Gouge TH, Ginsburg HB, Bangaru BS, Hazzi C. Fundoplication and gastrostomy in familial dysautonomia. J Pediatr 118:388-394, 1991.
Axelrod FB, Autonomic and Sensory Disorders. In: Principles and Practice of Medical Genetics, 2nd edition. Emory, AEH and Rimoin, DL, eds., Edinburgh: Churchill Livingston, 397-411, 1990. Axelrod FB, D’Amico R. Familial dysautonomia. In: Current Ocular Therapy, 3rd edition. Fraunfelder, FT and Roy, FH, ed., Philadelphia: WB Saunders, 362-364, 1990. Axelrod FB, Porges RF, Sein Me. Neonatal recognition of familial dysautonomia. J Pediatr 110:946-948, 1987. Fanconi Anemia
Wajnrajch MP, Gertner JM, Huma Z, Popovic J, Lin K, Verlander PC, Batish SD, Giampietro PF, Davis JG, New MI, Auerbach AD. Evaluation of Growth and Hormonal Status in Patients Referred to the International Fanconi Anemia Registry. Pediatrics. 2001 Apr; 107(4): 744-54.
Yamashita T, Nakahata T. Current Knowledge on the Pathophysiology of
Fanconi Anemia: from genes to phenotypes. Int J Hematol. 2001 Jul; 74(1):
33-41. Review. De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J. The Clinical and Radiological Features of Fanconi's Anaemia. Clin Radiol. 2000 May; 55(5): 340-5. Review. Dokal I. The Genetics of Fanconi's Anaemia. Best Pract Res Clin Haematol. 2000 Sep; 13(3): 407-25. Review.
Tipping AJ, Mathew CG. Erythropoiesis: Current Clinical Practice: Advances in the Genetics and Biology of Fanconi Anemia. Hematol. 2000; 5(1): 1-13.
Auerbach A. Fanconi Anemia: Genetic testing in Ashkenazi Jews. Genetic Testing 1(1):27-34, 1997. Buchwald M, Joenje H, Auerbach AD. Fanconia Anemia. In: The Metabolic Basis of Inherited Diseases, 7th Edition. Scriver CR, Beaudet AL, Sly WS, Valle D, eds., New York: McGraw-Hill, Chapter 162, 1997. Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD. Carrier frequency of the IVS4 +4 Aà T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 86:4034-4038, 1995.
Whitney MA, Jakobs P, Kaback M, Moses RE, Grompe M. The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. Hum. Mutat. 3:339-341, 1994.
Gibson, RA, Buchwald M, Roberts RG, Mathew CG. Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum. Molec. Genet. 2:5-38, 1993. Strathdee CA, Duncan, AMV, Buchwald, M. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genet. 1:196-198, 1992. Gaucher Disease
Poll LW, Maas M, Terk MR, Roca-Espiau M, Bembi B, Ciana G, Weinreb NJ. Response of Gaucher Bone Disease to Enzyme Replacement Therapy. Br J Radiol. 2002 May 24; 75(Suppl 1): A25-A36.
Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Skeletal Aspects of Gaucher Disease: A Review. Br J Radiol. 2002 May 24; 75(Suppl 1): A2-A12. Whitfield PD, Nelson P, Sharp PC, Bindloss CA, Dean C, Ravenscroft EM, Fong BA, Fietz MJ, Hopwood JJ, Meikle PJ. Correlation Among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity. Mol Genet Metab. 2002 Jan; 75(1): 46-55. Zhao H, Grabowski GA. Gaucher Disease: Perspectives on a Prototype Lysosomal Disease. Cell Mol Life Sci. 2002 Apr; 59(4): 694-707. Barranger JA, O'Rourke E. Lessons Learned From the Development of Enzyme Therapy For Gaucher Disease. J Inherit Metab Dis. 2001; 24 Suppl 2: 89-96; discussion 87-8.
Desnick RJ. Enzyme Replacement and Beyond. J Inherit Metab Dis. 2001 Apr; 24(2): 251-65. Erikson A. Remaining Problems in the Management of Patients with Gaucher Disease. J Inherit Metab Dis. 2001; 24 Suppl 2:122-6; discussion 87-8.
Goitein O, Elstein D, Abrahamov A, Hadas-Halpern I, Melzer E, Kerem E, Zimran A. Lung Involvement and Enzyme Replacement Therapy in Gaucher's Disease. QJM. 2001 Aug; 94(8): 407-15.
Hollak CE, Maas M, Aerts JM. Clinically Relevant Therapeutic Endpoints in Type I Gaucher Disease. J Inherit Metab Dis. 2001; 24 Suppl 2:97-105; discussion 87-8.
Kasturi L, Amin SA. Enzyme Replacement Therapy in Gaucher's Disease. Indian Pediatr. 2001 June; 38(6): 686-8. Mankin HJ, Rosenthal DI, Xavier R. Gaucher Disease. New Approaches to an Ancient Disease. J Bone Joint Surge Am. 2001 May; 83-A (5): 748-62. Pastores GM, Patel MJ, Firooznia H. Bone and Joint Complications Related to Gaucher Disease. Curr Rheumatol Rep. 2000 Apr; 2(2): 175-80.
Kurre P, Kiem HP. Progress Towards Hematopoietic Stem Cell Gene Therapy. Curr Opin Mol Ther. 2000 Aug;2(4):400-11.
Altarescu G, Schiffman R, Parker CC, Moore DF, Kreps C, Brady RO, Barton NW. Comparative Efficacy of Dose Regimens in Enzyme Replacement Therapy of Type I Gaucher Disease. Blood Cells Mol Dis. 2000 Aug; 26(4): 285-90. Beutler E. Dosage-Response in the Treatment of Gaucher Disease by Enzyme Replacement Therapy. Blood Cells Mol Dis. 2000 Aug; 26(4): 303-6.
Diaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabas A, Vilageliu L, Grinberg D. On the Age of the Most Prevalent Gaucher Disease-Causing Mutation, N370S. Am J Hum Genet. 2000 Jun; 66(6): 2014-5. Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid Beta-Glucosidase Mutations. Am J Hum Genet. 2000 June; 66(6): 1821-32.
Zimran A, Abrahamov A, Elstein D. Children with Type I Gaucher Disease: Growing into Adulthood With and Without Enzyme Therapy. Isr Med Assoc J. 2000 Feb; 2(2): 80-1. Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH, Pastores GM, Scott CR, Wappner RS, Weinreb NJ, Wisch JS. Gaucher Disease: Recommendations on Diagnosis, Evaluation, and Monitoring. Arch Intern Med. 1998 Sep 14;158(16):1754-60. Grabowski GA, Leslie N, Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev 12(2):115-33, 1998.
Beutler E. Gaucher disease. Curr Opin Hematol 4(1):19-23, 1997. Pastores GM, Sibille AR, Gravowski GA: Enzyme augmentation therapy in Gaucher disease type 1: Dosage efficacy and adverse effects. Blood 822:408-416, 1993.
Sibille AR, Eng CM, Kim SJ, Pastores GM, Grabowski GA: Genotype-phenotype correlations in Gaucher disease type 1. Am J Hum Genet 52:1094-1101, 1993.
Barton NW, Furbish FS, Murray GJ, Garfield, M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 87:1913, 1990. Desnick RJ, Gatt S, Grabowski GA, eds. Gaucher Disease: A century of Delineation and Research. New York: Alan R. Liss, 1982, p. 740
Mucolipidosis
Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. Identification of the gene causing Mucolipidosis type IV. Nat Gen 26:118-121, 2001. Reis S, Sheffer R, Merin S, Luder A, Bach G. Mucolipidosis IV, a mild form with late onset. Am J Med Genet 47:392-394, 1993.
Zeigler M, Bargal R, Suri V, Meidan B, Bach G. Mucolipidosis type IV: Accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis. Prenatal Diagnosis 12:1037-1042, 1992. Bach G, Desnick RJ. Lysosomal accumulation of phospholipids in Mucolipidosis IV cultured fibroblasts. Enzyme 40:40-45, 1988.
Amir N, Zlotogora J, Bach G. Mucolipidosis Type IV: Clinical spectrum and natural history. Pediatrics 79:953-957, 1987.
Newell FW, Matalon R, Meyer S. A new Mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. Am J Ophthal 30:440-449, 1975.
Kohn G, Livni N, Beythe Y, Legum C, Bach G, Cohen M. Prenatal diagnosis of Mucolipidosis IV by electron microscopy. Pediatr Res 9:314, 1975.
Berman ER, Livni N, Shapiro E, Merin S, Levij IS. Congenital corneal clouding with abnormal systemic storage bodies; A new variant of Mucolipidosis. J Pediatr 84: 519-526, 1974. Niemann-Pick Disease Weitman J. Niemann-Pick Disease Genes. Trends Mol Med. 2001 Mar; 7(3): 102. Kolodny EH. Niemann-Pick Disease. Curr Opin Hematol. 2000 Jan; 7(1): 48-52.
Miranda, S.R.P., He, X., Gatt, S., Dagan, A., and Schuchman, E.H.: Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological correction of the pathophysiology. FASEB J. 14:1988-1995, 2000. Minai OA, Sullivan EJ, Stoller JK. Pulmonary Involvement in Niemann-Pick Disease: Case Report and Literature Review. Respir Med. 2000 Dec; 94(12): 1241-51. Miranda SR, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ, Schuchman EH. Infusion of Recombinant Human Acid Sphingomyelinase into Niemann-Pick Disease Mice Leads to Visceral, But Not Neurological, Correction of the Pathophysiology. FASEB J. 2000 Oct; 14(13): 1988-95. Raddadi AA, Al Twaim AA. Type A Niemann-Pick Disease. J Eur Acad Dermatol Venereol. 2000 Jul; 14(4): 301-3.
Miranda, S.R.P., Erlich, S., Friedrich, V.L. Jr., Haskins, M.E., Gatt, S., and Schuchman, E.H.: Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase deficient mice. Transplantation 65:884-892, 1998. Horinouchi, K., Erlich, S., Perl, D., Ferlinz, K., Bisgaier, C.L., Sandhoff, K., Desnick, R.J., Stewart, C.L., and Schuchman, E.H.: Acid sphingomyelinase deficient mice: A model of Types A and B Niemann-Pick disease. Nat. Genet., 10:288-293, 1995. Levran, O., Desnick, R.J., and Schuchman, E.H.: Type A Niemann-Pick disease: A frame-shift mutation in the acid sphingomyelinase gene (fsP330) occurs in about 8% of Ashkenazi Jewish alleles. Hum. Mut., 2:317-319, 1993. Schuchman, E.H., Levran, O., Pereira, L.V., and Desnick, R.J.: Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase. Genomics, 12:197-205, 1992. Levran O, Desnick RJ, Schuchman EH. A common missense mutation (L302P) in Ashkenazi Jewish type A Niemann-Pick disease patients. Transplant expression studies demonstrate the causative nature of the two common Ashkenazi Jewish Niemann-Pick disease mutations. Blood 80:2081-2087, 1992.
Levran O, Desnick RJ, Schuchman EH. Niemann-Pick disease: A frequent missense mutation in the acid sphingomyelinase gene causing types A and B disease in individuals of Ashkenazi Jewish ancestry. Proc Natl Acad Sci USA 88:3748-3752, 1991. Levran O, Desnick RJ, Schuchman EH. Niemann-Pick type B disease: Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J Clin Invest 88:806-810, 1991.
Brady RO, Kanfer JN, Mock MB, Frederickson DS. The metabolism of sphingomyelin II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc Natl Acad Sci USA 55:367-371, 1966. Tay-Sachs Disease Desnick RJ and Kaback MM eds. Tay-Sachs Disease. San Diego: Academic Press, 2001. Kaback MM, Desnick RJ. Tay-Sachs Disease: From Clinical Description to Molecular Defect. Adv Genet. 2001; 44:1-9.
Kolodny EH. Molecular Genetics of the Beta-Hexosaminidase Isoenzymes: An Introduction. Adv Genet. 2001; 44:101-26. Myerowitz R. The Search for the Genetic Lesion in Ashkenazi Jews with Classic Tay-Sachs Disease. Adv Genet. 2001; 44:137-43. Navon R. Late-Onset GM2 Gangliosidosis and Other Hexosaminidase Mutations Among Jews. Adv Genet. 2001; 44:185-97. Review. Risch N. Molecular Epidemiology of Tay-Sachs Disease. Adv Genet. 2001; 44:233-52. Review. Salman MS, Clarke JT, Midroni G, Waxman MB. Peripheral and Autonomic Nervous System Involvement in Chronic GM2-Gangliosidosis. J Inherit Metab Dis. 2001 Feb; 24(1): 65-71.
Kaback MM. Population Based Genetic Screening for Reproductive Counseling: The Tay-Sachs Disease Model. Eur J Pediart. 2000 Dec; 159 Suppl 3:S192-5. Kaplan, F. Tay-Sachs disease carrier screening: a model for prevention of genetic disease. Genetic Testing 2 (4):271-292, 1998.
Kaback M, Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. JAMA 270:2307-2315, 1993. Sandhoff K, Conzelmann E, Neufeld EF, Kabach MM, Suzuki K. The GM2-gangliosidoses. In: The Metabolic Basis of Inherited Diseases, 6th ed. Scriver CR, Beaudet AL, Sly WS, and Valle D, eds. New York: McGraw-Hill, 1989: pp. 1807-1839. Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ. Chronic GM2-gangliosidosis masquerading as atypical Friedreich Ataxia: Clinical, morphologic, and biochemical studies of nine cases. Neurology 31:787-798, 1981. Torsion Dystonia Breakefield XO, Kamm C, Hanson PI. TorsinA: Movement at Many Levels. Neuron. 2001 Jul 19; 31(1): 9-12.
Bressman SB, Sabatti C, Raymond D, De Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield X, Ozelius LJ, Risch NJ. The DYT1 Phenotype and Guidelines for Diagnostic Testing. Neurology. 2000 May 9; 54(9): 1746-52.
Barbero-Aguirre P. Movement Disorders: Dystonias Which Are Apparently Psychosomatic. Torsion Dystonias. Rev Neurol. 1999 Feb; 28 Suppl 2:S 192-4. Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, De Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO. The TOR1A (DYT1) Gene Family and its Role in Early Onset Torsion Dystonia. Genomics. 1999 Dec 15; 62(3): 377-84.
Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, De Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17(1):40-8, 1997.
Fahn S, Breakefield XO, Dystonia Genetics Research Group. Idiopathic torsion dystonia in Ashkenazi Jews: Autosomal dominant inheritance pattern of gene located on chromosome 9q32-34. In: Genetic Diversity Among Jews. Diseases and Markers at the DNA Level. Bonne-Tamir B, Adam A, eds. New York: Oxford University Press, 202-219, 1992.
Greene PE, Fahn S. Baclofen in the treatment of idiopathic dystonia in children. Movement Disorders 7:45-52, 1992.
Fahn S. The genetics of Idiopathic Torsion Dystonia. Int J Neurol. 1991-1992; 25-26:70-80.
Kramer PL, Ozelius L, De Leon D, Risch N, Brin MF, Bressman SB, Burke RE, Kwiatkowski DJ, Schubgack DE, Shale H, Gusella JF, Breakefield XO, Fahn S. Dystonia gene in Ashkenazi Jewish population located on chromosome 9q32-34. Ann Neurol 27:114-120, 1990.
Bressman SB, De Leon D, Brin MF, Risch N, Burke RE, Greene PE, Shale H, Fahn S. Idiopathic torsion dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance. Ann Neurol 26:612-620, 1989. Fahn S, Marsden CK, Calne DB. Dystonia 2. In: Advances in Neurology Vol. 50. New York: Raven Press, 1988.
Greene P, Shale H, Fahn S. Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugs. Movement Dis 3:46-50, 1988.
Brin MF, Fahn S, Moskowitz C, Friedman A, Shale HM, Greene PE, Blitzer A, List T, Lange D, Lovelace RE, McMahon D. Localized injections of botulinum toxin for the treatment of focal dystonia and hemifacial spasm. Movement Dis 2:237-254, 1987.
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