-
1
-
-
0024338979
-
-
82:223-6.
-
Abrahamson M, Islam MQ, Szpirer J, Szpirer C, Levan G, (1989): The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20. Hum Genet 82:223-6.
-
Islam MQ, Szpirer J, Szpirer C, Levan G, (1989): the Human Cystatin C Gene (CST3), Mutated in Hereditary Cystatin C Amyloid Angiopathy, Is Located on Chromosome 20. Hum Genet
-
-
Abrahamson, M.1
-
4
-
-
33746726195
-
-
1603-1621.
-
Beaudet AL, Thomas GH, (1995): Disorders of glycoprotein degradation. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): Metabolic Basis of Inherited Diseases. New York: McGraw Hill, pp 1603-1621.
-
Thomas GH, (1995): Disorders of Glycoprotein Degradation. in Scriver CR, Beaudet AL, Sly WS, Valle D (Eds): Metabolic Basis of Inherited Diseases. New York: McGraw Hill, Pp
-
-
Beaudet, A.L.1
-
5
-
-
0024420201
-
-
1231-1260.
-
Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, Meyer E, Tyler JL, Diksic M, Arnold D, et al,. (1989): Myoclonus epilepsy and raggedred fibres (MERRF) 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 112: 1231-1260.
-
Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, Meyer E, Tyler JL, Diksic M, Arnold D, Et Al,. (1989): Myoclonus Epilepsy and Raggedred Fibres (MERRF) 1. a Clinical, Pathological, Biochemical, Magnetic Resonance Spectrographic and Positron Emission Tomographic Study. Brain 112
-
-
Berkovic, S.F.1
-
6
-
-
0028169738
-
-
7:521-524.
-
Burke JF, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM, (1994): The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Gen 7:521-524.
-
Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM, (1994): the Haw River Syndrome: Dentatorubropallidoluysian Atrophy (DRPLA) in an African-American Family. Nature Gen
-
-
Burke, J.F.1
-
8
-
-
0028027686
-
-
44:2372-5.
-
Cochius J, Carpenter S, Andermann E, Rouleau G, Nousiainen U, Kalviainen R, Farrell K, Andermann F, (1994): Sweat gland vacuoles in Unverricht-Lundborg disease: A clue to diagnosis? Neurology 44:2372-5.
-
Carpenter S, Andermann E, Rouleau G, Nousiainen U, Kalviainen R, Farrell K, Andermann F, (1994): Sweat Gland Vacuoles in Unverricht-Lundborg Disease: a Clue to Diagnosis? Neurology
-
-
Cochius, J.1
-
10
-
-
0022194309
-
-
40:356-359.
-
Conneally PM, Edwards JH, Kidd KK, Lalouel J-M, Morton NE, Ott J, White R, (1985): Report of the committee on methods of linkage analysis and reporting. Cytogenet Cell Genet 40:356-359.
-
Edwards JH, Kidd KK, Lalouel J-M, Morton NE, Ott J, White R, (1985): Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet
-
-
Conneally, P.M.1
-
11
-
-
0021356590
-
-
34:285-294.
-
Delgado-Escueta AV, Gee MN, Sainz J, Serratosa JM, Medina MT, Minassian MT (1984):Juvenile myoclonic epilepsy of Janz. Neurology 34:285-294.
-
Gee MN, Sainz J, Serratosa JM, Medina MT, Minassian MT (1984):Juvenile Myoclonic Epilepsy of Janz. Neurology
-
-
Delgado-Escueta, A.V.1
-
12
-
-
0028082058
-
-
1993
-
Delgado-Escueta AV, Serratosa JM, Liu A, Weissbecker K, Medina MT, Gee M, Treiman LJ, Sparkes RS, "Progress in mapping human epilepsy genes," Epilepsia 35(suppl 1):29-1O, 1993,
-
Serratosa JM, Liu A, Weissbecker K, Medina MT, Gee M, Treiman LJ, Sparkes RS, "Progress in Mapping Human Epilepsy Genes," Epilepsia 35(suppl 1):29-1O
-
-
Delgado-Escueta, A.V.1
-
15
-
-
33746697972
-
-
press.
-
Delgado-Escueta AV, et al, Genes for common idiopathic generalized epilepsies: Generalized tonic clonic, childhood absence epilepsy and juvenile myoclonic epilepsy. In Delgado-Escueta AV, Wilson WA, Olsen RW, Porter RJ (eds): Jasper's Basic Mechanisms of the Epilepsies, Advances in Neurology. LippincottRaven Press, (in press).
-
Et Al, Genes for Common Idiopathic Generalized Epilepsies: Generalized Tonic Clonic, Childhood Absence Epilepsy and Juvenile Myoclonic Epilepsy. in Delgado-Escueta AV, Wilson WA, Olsen RW, Porter RJ (Eds): Jasper's Basic Mechanisms of the Epilepsies, Advances in Neurology. LippincottRaven Press, In
-
-
Delgado-Escueta, A.V.1
-
17
-
-
0026096204
-
-
41:1651-1655.
-
Durner M, Sander T, Greenberg DA, Johnson K, Beck-Mannagetta G, Janz D, (1991): Localization of idiopathic generalized epilepsy on chromosome 6p in females of juvenile myoclonic epilepsy patients. Neurology 41:1651-1655.
-
Sander T, Greenberg DA, Johnson K, Beck-Mannagetta G, Janz D, (1991): Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Females of Juvenile Myoclonic Epilepsy Patients. Neurology
-
-
Durner, M.1
-
21
-
-
0019207836
-
-
6:466-75.
-
Federico A, D'Amore I, Palladini G, Medolago-Albani L, Guazzi GC, Tomaccini D, (1980): Lafora's disease. Clinical, histological ultrastructural and biochemical study. Acta Neurolog 6:466-75.
-
D'Amore I, Palladini G, Medolago-Albani L, Guazzi GC, Tomaccini D, (1980): Lafora's Disease. Clinical, Histological Ultrastructural and Biochemical Study. Acta Neurolog
-
-
Federico, A.1
-
27
-
-
85121083196
-
-
31:185-192.
-
Greenberg DA, Delgado-Escueta AV, Widelitz H, Sparkes RS, Treiman LJ, Maldonado HM, Terasaki PI, Parks MS, (1988). Juvenile myoclonic epilepsy (JME) may be linked to the Bf and HLA locis in human chromosome 6. Am J Med Genet 31:185-192.
-
Delgado-Escueta AV, Widelitz H, Sparkes RS, Treiman LJ, Maldonado HM, Terasaki PI, Parks MS, (1988). Juvenile Myoclonic Epilepsy (JME) May Be Linked to the Bf and HLA Locis in Human Chromosome 6. Am J Med Genet
-
-
Greenberg, D.A.1
-
28
-
-
33746739054
-
-
11:737-758.
-
Guazzi GC, Ghetti B, Bertolino A, Fiore C, Vecchio M, Striano S, (1968): Epilepssia mioclonica giovanile con macchiarossociliegia al fondo dell'occhio. I. Studio genetico e clinico. Folia Neuropsychiat 11:737-758.
-
Ghetti B, Bertolino A, Fiore C, Vecchio M, Striano S, (1968): Epilepssia Mioclonica Giovanile Con Macchiarossociliegia Al Fondo Dell'occhio. I. Studio Genetico E Clinico. Folia Neuropsychiat
-
-
Guazzi, G.C.1
-
30
-
-
0345363426
-
-
92:1-21.
-
Inazuki G, Naito H, Ohama E, Kawase Y, Honma Y, Tokiguchi S, Hasegawa S, Tamura K, Kawai K, Nagai H, et al,. (1990): A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy: The nosological place of familial essential myoclonus and epilepsy (FEME). Seishin Shinkeigaku Zasshi. Psychiatria et Neurologia Japonica 92:1-21.
-
Naito H, Ohama E, Kawase Y, Honma Y, Tokiguchi S, Hasegawa S, Tamura K, Kawai K, Nagai H, Et Al,. (1990): a Clinical Study and Neuropathological Findings of a Familial Disease with Myoclonus and Epilepsy: the Nosological Place of Familial Essential Myoclonus and Epilepsy (FEME). Seishin Shinkeigaku Zasshi. Psychiatria Et Neurologia Japonica
-
-
Inazuki, G.1
-
33
-
-
0028216760
-
-
6:9-12.
-
Koide R, Ikuchi T, Onodesa O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa, Hayashi T,. (1994): Unstable expansion of CAG repeat in hereditary dcntato-rubral-pallidoluysian atrophy (DRPLA). Nature Genet 6:9-12.
-
Ikuchi T, Onodesa O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa, Hayashi T,. (1994): Unstable Expansion of CAG Repeat in Hereditary Dcntato-rubral-pallidoluysian Atrophy (DRPLA). Nature Genet
-
-
Koide, R.1
-
38
-
-
0025909848
-
-
88:3696-3699.
-
Lehesjoki A-E, Koskiniemi M, Sistonen P, Miao J, Hastbacka J, Norio R, de la Chapelle A, et al,. (1991): Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sei USA 88:3696-3699.
-
Koskiniemi M, Sistonen P, Miao J, Hastbacka J, Norio R, De La Chapelle A, Et Al,. (1991): Localization of a Gene for Progressive Myoclonus Epilepsy to Chromosome 21q22. Proc Natl Acad Sei USA
-
-
Lehesjoki, A.-E.1
-
39
-
-
0026666387
-
-
42:1545-1550.
-
Lehesjoki A-E, Koskiniemi M, Pandolfo M, Antonelli A, Kyllerman M, Wahlstrom J, Nergardh A, Burmeister M, Sistonen P, Norio R, et al,. (1992): Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. Neurology 42:1545-1550.
-
Koskiniemi M, Pandolfo M, Antonelli A, Kyllerman M, Wahlstrom J, Nergardh A, Burmeister M, Sistonen P, Norio R, Et Al,. (1992): Linkage Studies in Progressive Myoclonus Epilepsy: Unverricht-Lundborg and Lafora's Diseases. Neurology
-
-
Lehesjoki, A.-E.1
-
40
-
-
0027430115
-
-
11:2384-2386.
-
Lehesjoki AE, Eldridge R, Eldridge J, Wilder BJ, de la Chapelle A, (1993a): Progressive myoclonus epilepsy of Unverricht-Lundborg type: A clinical and molecular genetic study of a family from the United States with four affected sibs. Neurology 11:2384-2386.
-
Eldridge R, Eldridge J, Wilder BJ, De La Chapelle A, (1993a): Progressive Myoclonus Epilepsy of Unverricht-Lundborg Type: a Clinical and Molecular Genetic Study of a Family from the United States with Four Affected Sibs. Neurology
-
-
Lehesjoki, A.E.1
-
41
-
-
0027236091
-
-
2:1229-1234.
-
Lehesjoki AE, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, de la Chapelle A, (1993b): Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping. Hum Mol Genet 2:1229-1234.
-
Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, De La Chapelle A, (1993b): Localization of the EPM1 Gene for Progressive Myoclonus Epilepsy on Chromosome 21: Linkage Disequilibrium Allows High Resolution Mapping. Hum Mol Genet
-
-
Lehesjoki, A.E.1
-
42
-
-
0028235643
-
-
93:668-74.
-
Lehesjoki AE, Tassinari ÇA, Avanzini G, Michelucci R, Franceschetti S, Antonelli A, Rubboli G, de la Chapelle A, (1994): PME of Unverricht-Lundborg type in the Mediterranean region: Linkage and linkage disequilibrium confirm the assignment to the EPM1 locus. Human Genet 93:668-74.
-
Tassinari ÇA, Avanzini G, Michelucci R, Franceschetti S, Antonelli A, Rubboli G, De La Chapelle A, (1994): PME of Unverricht-Lundborg Type in the Mediterranean Region: Linkage and Linkage Disequilibrium Confirm the Assignment to the EPM1 Locus. Human Genet
-
-
Lehesjoki, A.E.1
-
43
-
-
0027359350
-
-
53:670-5.
-
Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG, (1993): Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chr 8q. Am J Hum Genet 53:670-5.
-
Leach RJ, Ward K, O'Connell P, Ryan SG, (1993): Genetic Heterogeneity in Benign Familial Neonatal Convulsions: Identification of a New Locus on Chr 8q. Am J Hum Genet
-
-
Lewis, T.B.1
-
44
-
-
0029013275
-
-
1995.
-
Liu AW, Delgado-Escueta AV, Serratosa JM, Alfonso ME, Medina MT, Gee MN, Cordova S, Zhao HZ, Spellman JM, Ramos Peek JR, "Juvenile myoclonic epilepsy locus in chromosome 6p21,2pll: Linkage to convulsions and EEC trait," Amer J Hum Genet, 57:368-381, 1995.
-
Delgado-Escueta AV, Serratosa JM, Alfonso ME, Medina MT, Gee MN, Cordova S, Zhao HZ, Spellman JM, Ramos Peek JR, "Juvenile Myoclonic Epilepsy Locus in Chromosome 6p21,2pll: Linkage to Convulsions and EEC Trait," Amer J Hum Genet, 57:368-381
-
-
Liu, A.W.1
-
45
-
-
33746668951
-
-
Myoclonic
-
Liu AW, Delgado-Escueta AV, Serratosa JM, Alonso ME, Medina MT, Gee MN, Cordova S, Zhao HZ, Spellman JM, Rubio Donnadieu F, Peek R, Treiman LJ, Sparkes RS, "Juvenile Myoclonic
-
Delgado-Escueta AV, Serratosa JM, Alonso ME, Medina MT, Gee MN, Cordova S, Zhao HZ, Spellman JM, Rubio Donnadieu F, Peek R, Treiman LJ, Sparkes RS, "Juvenile
-
-
Liu, A.W.1
-
48
-
-
0018123291
-
-
70:527-36.
-
Mancardi GL, Alema G, Palladini G, De Martini I, Leonard! A, Salvarani S, Bugiani O, (1978): Is Lafora's disease really a disorder of carbohydrate metabolism? Pathologica 70:527-36.
-
Alema G, Palladini G, De Martini I, Leonard! A, Salvarani S, Bugiani O, (1978): Is Lafora's Disease Really a Disorder of Carbohydrate Metabolism? Pathologica
-
-
Mancardi, G.L.1
-
49
-
-
0027982645
-
-
22:465-8.
-
Mitchison HM, Taschner PE, O'Rawe AM, de Vos N, Phillips HA, Thompson AD, Kozman HM, Haines JL, Schlumpf K, D'Arigo K, et al,. (1994): Genetic mapping of the Batten disease locus (CLN3) to ther interval D16S288-D16S383 by analysis of haplotypes and allelic association. Genomics 22:465-8.
-
Taschner PE, O'Rawe AM, De Vos N, Phillips HA, Thompson AD, Kozman HM, Haines JL, Schlumpf K, D'Arigo K, Et Al,. (1994): Genetic Mapping of the Batten Disease Locus (CLN3) to Ther Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association. Genomics
-
-
Mitchison, H.M.1
-
50
-
-
85120517323
-
-
57:312-315.
-
Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PE, Schlumpf K, D'Arigo K, de Vos N, Gormally E, Phillips HA, Thompson AD, et al,. (1995): Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits. Am J Med Genet 57:312-315.
-
O'Rawe AM, Lerner TJ, Taschner PE, Schlumpf K, D'Arigo K, De Vos N, Gormally E, Phillips HA, Thompson AD, Et Al,. (1995): Refined Localization of the Batten Disease Gene (CLN3) by Haplotype and Linkage Disequilibrium Mapping to D16S288-D16S383 and Exclusion from this Region of a Variant Form of Batten Disease with Granular Osmiophilic Deposits. Am J Med Genet
-
-
Mitchison, H.M.1
-
51
-
-
0024519771
-
-
342.
-
Msiao K, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Weslaway D, Ott J, Prusiner SB, (1989): Linkage of a prion protein missense variant to Gerstmann-Strausster Syndrome. Nature 338: 342.
-
Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Weslaway D, Ott J, Prusiner SB, (1989): Linkage of a Prion Protein Missense Variant to Gerstmann-Strausster Syndrome. Nature 338
-
-
Msiao, K.1
-
52
-
-
0028335386
-
-
6:14-18.
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, et al,. (1994): Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 6:14-18.
-
Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Et Al,. (1994): Dentatorubral and Pallidoluysian Atrophy Expansion of an Unstable CAG Trinucleotide on Chromosome 12p. Nature Genet
-
-
Nagafuchi, S.1
-
55
-
-
0029131771
-
-
2:443-449.
-
Ohashi T, Watabe K, Sato Y, Saito I, Barranger JA, Eto Y, (1995): Successful transduction of oligodendrocytes and restoration of arylsulfatase a deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector. Gene Ther 2:443-449.
-
Watabe K, Sato Y, Saito I, Barranger JA, Eto Y, (1995): Successful Transduction of Oligodendrocytes and Restoration of Arylsulfatase a Deficiency in Metachromatic Leukodystrophy Fibroblasts Using an Adenovirus Vector. Gene Ther
-
-
Ohashi, T.1
-
56
-
-
33746702221
-
-
press.
-
Ohashi T, Watabe K, Sly WS, Kobayashi H, Eto Y, (1996): Adenovirus mediated gene transfer and expression of human β-glucuronidase in various tissues of MPS VII (sly disease). Am J Med Genet (in press).
-
Watabe K, Sly WS, Kobayashi H, Eto Y, (1996): Adenovirus Mediated Gene Transfer and Expression of Human β-Glucuronidase in Various Tissues of MPS VII (Sly Disease). Am J Med Genet In
-
-
Ohashi, T.1
-
58
-
-
33746682740
-
-
212-220.
-
Oller-Daurella L, Oiler Ferrer-Vidai L, cds,. (1981): Atlas de Crisis Épilépticas. 2nd ed. Basel, Switzerland: Geigy Division Farmaceütica, pp 212-220.
-
Oiler Ferrer-Vidai L, Cds,. (1981): Atlas De Crisis Épilépticas. 2nd Ed. Basel, Switzerland: Geigy Division Farmaceütica, Pp
-
-
Oller-Daurella, L.1
-
60
-
-
85120508981
-
-
42:561-7.
-
Palmer DN, Fearnley IM, Walker JE, Hall NA, Lake BD, Wolfe LS, Haltia M, Martinus RD, Jolly RD, (1992): Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am J Med Genet 42:561-7.
-
Fearnley IM, Walker JE, Hall NA, Lake BD, Wolfe LS, Haltia M, Martinus RD, Jolly RD, (1992): Mitochondrial ATP Synthase Subunit C Storage in the Ceroid-lipofuscinoses (Batten Disease). Am J Med Genet
-
-
Palmer, D.N.1
-
62
-
-
13344269666
-
-
271:1731-1.
-
Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, et al,. (1996): Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:1731-1.
-
Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Et Al,. (1996): Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1). Science
-
-
Pennacchio, L.A.1
-
66
-
-
33746751093
-
-
62/63:199-201.
-
Salas-Puig J, Gonzalez C, Tunon A, Macarron J, Lahoz CH, Parkasa, (1988): Epilepsia mioclonica juvenil: Aspectos electroclinicos. Boll Lega It Epil 62/63:199-201.
-
Gonzalez C, Tunon A, Macarron J, Lahoz CH, Parkasa, (1988): Epilepsia Mioclonica Juvenil: Aspectos Electroclinicos. Boll Lega It Epil
-
-
Salas-Puig, J.1
-
67
-
-
33746721707
-
-
press.
-
Sano A, Kaneko S, (1997): Localization of the gene for benign adult familial myoclonus epilepsy. In AV DelgadoEscueta AV, Wilson WA, Olsen RW, Porter RJ (eds): Jasper's Basic Mechanisms of the Epilepsies. Advances in Neurology. New York: LippincottRaven Press (in press).
-
Kaneko S, (1997): Localization of the Gene for Benign Adult Familial Myoclonus Epilepsy. in AV DelgadoEscueta AV, Wilson WA, Olsen RW, Porter RJ (Eds): Jasper's Basic Mechanisms of the Epilepsies. Advances in Neurology. New York: LippincottRaven Press In
-
-
Sano, A.1
-
68
-
-
33746766483
-
-
46:A145.
-
Schiffman R, Parker CC, Scott LJC, DeGraba T, Brady RO, Barton NW, (1996): A prospective study of enzyme replacement therapy in Type 3 Gaucher Disease. Neurology 46:A145.
-
Parker CC, Scott LJC, DeGraba T, Brady RO, Barton NW, (1996): a Prospective Study of Enzyme Replacement Therapy in Type 3 Gaucher Disease. Neurology
-
-
Schiffman, R.1
-
70
-
-
0029082843
-
-
4:1657-1663.
-
Serratosa JM, Delgado-Escueta AV, Ignacio P, Shih S, Drury I, Berciano J, Zabala JA, Antunez MC, Sparkes RS, (1995): The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum Mol Genet 4:1657-1663.
-
Delgado-Escueta AV, Ignacio P, Shih S, Drury I, Berciano J, Zabala JA, Antunez MC, Sparkes RS, (1995): the Gene for Progressive Myoclonus Epilepsy of the Lafora Type Maps to Chromosome 6q. Hum Mol Genet
-
-
Serratosa, J.M.1
-
71
-
-
33746731856
-
-
1996.
-
Serratosa JM, Delgado-Escueta AV, Medina MT, Zhang Q, Iranmenesh I, Sparkes RS, "Juvenile myoclonic epilepsy: D6S313 and D6S258 flank a 40 cM JME region," Annals of Neurology, 39:58-66, 1996.
-
Delgado-Escueta AV, Medina MT, Zhang Q, Iranmenesh I, Sparkes RS, "Juvenile Myoclonic Epilepsy: D6S313 and D6S258 Flank a 40 CM JME Region," Annals of Neurology, 39:58-66
-
-
Serratosa, J.M.1
-
72
-
-
0022567905
-
-
43:357-372.
-
Shibasaki H, Yamashita Y, Tobimatsu S, Neshige R, (1986): Electroencephalographic correlates of myoclonus. In Fahn S, Marsden CD, Van Woert MH (eds): Myoclonus. Advances in Neurol- , ogy. New York: Raven Press 43:357-372.
-
Yamashita Y, Tobimatsu S, Neshige R, (1986): Electroencephalographic Correlates of Myoclonus. in Fahn S, Marsden CD, Van Woert MH (Eds): Myoclonus. Advances in Neurol- , Ogy. New York: Raven Press
-
-
Shibasaki, H.1
-
75
-
-
0021991227
-
-
69:340-344.
-
Sips HJ, DeWit-Verbeek HA, DeWit A, Westerveld A, Galjaard H, (1985): The chromosomal localization of human bcta-galactosidase on human chromosome 22. Hum Genet 69:340-344.
-
DeWit-Verbeek HA, DeWit A, Westerveld A, Galjaard H, (1985): the Chromosomal Localization of Human Bcta-galactosidase on Human Chromosome 22. Hum Genet
-
-
Sips, H.J.1
-
77
-
-
0017145298
-
-
444:349-358.
-
Strecker G, Hondi-Assah T, Fournet B, Spik G, et al,. (1976): Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: I. Cell disease and two new types of mucolipidoses. Biochem Biophys Acta 444:349-358.
-
Hondi-Assah T, Fournet B, Spik G, Et Al,. (1976): Structure of the Three Major Sialyl-oligosaccharides Excreted in the Urine of Five Patients with Three Distinct Inborn Diseases: I. Cell Disease and Two New Types of Mucolipidoses. Biochem Biophys Acta
-
-
Strecker, G.1
-
78
-
-
0028929890
-
-
56:663-8.
-
Taschner PE, de Vos N, Thompson AD, Gallen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH, (1995): Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). Am J Hum Genet 56:663-8.
-
De Vos N, Thompson AD, Gallen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH, (1995): Chromosome 16 Microdeletion in a Patient with Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease). Am J Hum Genet
-
-
Taschner, P.E.1
-
80
-
-
33746772312
-
-
46:A145.
-
Tournay A, Parker C, Schiffman R, Brady R, Barton N, (1996): Enzyme replacement therapy in Type 2 Gaucher Disease. Neurology 46:A145.
-
Parker C, Schiffman R, Brady R, Barton N, (1996): Enzyme Replacement Therapy in Type 2 Gaucher Disease. Neurology
-
-
Tournay, A.1
-
81
-
-
0023131172
-
-
316:570.
-
Tsuji S, Choudary PV, Martin BM, Barranger JA, Stubblefield BR, Mayor JA, Ginns El, (1987): A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher disease. N Engl J Med 316:570.
-
Choudary PV, Martin BM, Barranger JA, Stubblefield BR, Mayor JA, Ginns El, (1987): a Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher Disease. N Engl J Med
-
-
Tsuji, S.1
-
84
-
-
85120517488
-
-
38:32-36.
-
Weissbecker KA, Durner M, Janz D, Scaramelli A, Sparkes RS, Spence MA, (1991): Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region on chr 6. Am J Med Genet 38:32-36.
-
Durner M, Janz D, Scaramelli A, Sparkes RS, Spence MA, (1991): Confirmation of Linkage between Juvenile Myoclonic Epilepsy Locus and the HLA Region on Chr 6. Am J Med Genet
-
-
Weissbecker, K.A.1
-
86
-
-
33746701557
-
-
press.
-
Weissbecker KA, Eiston R, Greenberg DA, (1997): Segregation and linkage analyses in the epilepsies. In: Jasper's Basic Mechanisms of the Epilepsies, Adv in Neurol Series, Delgado-Escueta AV, Wilson WA, Olsen RW, Porter RJ (eds): Lippincott-Raven Publishers, New York (in press).
-
Eiston R, Greenberg DA, (1997): Segregation and Linkage Analyses in the Epilepsies. In: Jasper's Basic Mechanisms of the Epilepsies, Adv in Neurol Series, Delgado-Escueta AV, Wilson WA, Olsen RW, Porter RJ (Eds): Lippincott-Raven Publishers, New York In
-
-
Weissbecker, K.A.1
-
87
-
-
0028964373
-
-
4:709-716.
-
Yamakawa K, Mitchell S, Hubert R, Chen XN, Colbern S, Huo YK, Gadomsky C, Kirn UJ, Korenberg JR, (1995): Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum Mol Gen 4:709-716.
-
Mitchell S, Hubert R, Chen XN, Colbern S, Huo YK, Gadomsky C, Kirn UJ, Korenberg JR, (1995): Isolation and Characterization of a Candidate Gene for Progressive Myoclonus Epilepsy on 21q22.3. Hum Mol Gen
-
-
Yamakawa, K.1
-
88
-
-
0029015557
-
-
10:99-103.
-
Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I, (1995): Abnormal gene product identified in hereditary dentatorbral-pallidoluysian atrophy (DRPLA) brain. Nature Gen 10:99-103.
-
Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I, (1995): Abnormal Gene Product Identified in Hereditary Dentatorbral-pallidoluysian Atrophy (DRPLA) Brain. Nature Gen
-
-
Yazawa, I.1
|