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Results: 1-25 | 26-40 |
Results: 26-40/40
MOLECULAR HETEROGENEITY OF LATE-ONSET FORMS OF GLOBOID-CELL LEUKODYSTROPHY
Authors: DEGASPERI R SOSA MAG SARTORATO EL BATTISTINI S MACFARLANE H GUSELLA JF KRIVIT W KOLODNY EH
Citation: R. Degasperi et al., MOLECULAR HETEROGENEITY OF LATE-ONSET FORMS OF GLOBOID-CELL LEUKODYSTROPHY, American journal of human genetics, 59(6), 1996, pp. 1233-1242
SUBSTITUTION OF ALANINE(543) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY
Authors: DEGASPERI R SOSA MAG GREBNER EE MANSFIELD D BATTISTINI S SARTORATO EL RAGHAVAN SS DAVIS JG KOLODNY EH
Citation: R. Degasperi et al., SUBSTITUTION OF ALANINE(543) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY, Biochemical and molecular medicine, 56(1), 1995, pp. 31-36
FAMILIAL SPASTIC PARAPARESIS - IS IT A MITOCHONDRIAL DISORDER
Authors: ZELNIK N LESHINSKY E KOLODNY EH
Citation: N. Zelnik et al., FAMILIAL SPASTIC PARAPARESIS - IS IT A MITOCHONDRIAL DISORDER, Pediatric neurosurgery, 23(4), 1995, pp. 225-226
MOLECULAR-GENETICS OF LATE-ONSET FORMS OF KRABBES DISEASE
Authors: KOLODNY EH SOSA MAG BATTISTINI S DEGASPERI R
Citation: Eh. Kolodny et al., MOLECULAR-GENETICS OF LATE-ONSET FORMS OF KRABBES DISEASE, Annals of neurology, 38(2), 1995, pp. 292-293
SYMPATHETIC SKIN-RESPONSE DIFFERENTIATES HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES TYPE-IV FROM TYPE-III
Authors: HILZ MJ STEMPER B BAER R KOLODNY EH AXELROD FB
Citation: Mj. Hilz et al., SYMPATHETIC SKIN-RESPONSE DIFFERENTIATES HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES TYPE-IV FROM TYPE-III, Annals of neurology, 38(2), 1995, pp. 335-336
ANTISULFATIDE IMMUNOGLOBULIN-G IS ELEVATED IN THE SERUM OF MULTIPLE-SCLEROSIS PATIENTS
Authors: KOLODNY EH DEGASPERI R SOSA MAG WEINREB HJ HERBERT J
Citation: Eh. Kolodny et al., ANTISULFATIDE IMMUNOGLOBULIN-G IS ELEVATED IN THE SERUM OF MULTIPLE-SCLEROSIS PATIENTS, Annals of neurology, 38(2), 1995, pp. 340-340
MUCOLIPIDOSIS-IV - MORPHOLOGY AND HISTOCHEMISTRY OF AN AUTOPSY CASE
Authors: FOLKERTH RD ALROY J LOMAKINA I SKUTELSKY E RAGHAVAN SS KOLODNY EH
Citation: Rd. Folkerth et al., MUCOLIPIDOSIS-IV - MORPHOLOGY AND HISTOCHEMISTRY OF AN AUTOPSY CASE, Journal of neuropathology and experimental neurology, 54(2), 1995, pp. 154-164
AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPLEGIA - LINKAGE ANALYSIS OF A HETEROGENEOUS TRAIT
Authors: DUBE MP ROULEAU GA KIBAR Z FARLOW MR EBERS G HARPER P KOLODNY EH BAUMBACH L FIGLEWICZ DA
Citation: Mp. Dube et al., AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPLEGIA - LINKAGE ANALYSIS OF A HETEROGENEOUS TRAIT, American journal of human genetics, 57(4), 1995, pp. 1093-1093
MOLECULAR-GENETICS OF LATE-ONSET KRABBE DISEASE
Authors: KOLODNY EH SOSA MAG BATTISTINI S SARTORATO EL YERETSIAN J MACFARLANE H GUSELLA J DEGASPERI R
Citation: Eh. Kolodny et al., MOLECULAR-GENETICS OF LATE-ONSET KRABBE DISEASE, American journal of human genetics, 57(4), 1995, pp. 1250-1250
LATE-ONSET G(M2)-GANGLIOSIDOSIS IN 2 SIBLINGS OF ASHKENAZI JEWISH ANCESTRY RESULTS FROM A MUTATION IN THE HEXA GENE CAUSING ABNORMAL THERMOLABILITY OF HEXOSAMINIDASE-A
Authors: DEGASPERI R SOSA MAG BATTISTINI S YERETSIAN J KOLODNY EH
Citation: R. Degasperi et al., LATE-ONSET G(M2)-GANGLIOSIDOSIS IN 2 SIBLINGS OF ASHKENAZI JEWISH ANCESTRY RESULTS FROM A MUTATION IN THE HEXA GENE CAUSING ABNORMAL THERMOLABILITY OF HEXOSAMINIDASE-A, American journal of human genetics, 57(4), 1995, pp. 1375-1375
SUBSTITUTION OF ALANINE(531) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY
Authors: SOSA MAG DEGASPERI R GREBNER EE MANSFIELD D BATTISTINI S SARTORATO EL RAGHAVAN SS DAVIS JG KOLODNY EH
Citation: Mag. Sosa et al., SUBSTITUTION OF ALANINE(531) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY, American journal of human genetics, 57(4), 1995, pp. 1386-1386
CANAVAN-DISEASE IN COMPOUND HETEROZYGOTE WITH NOVEL MUTATION (C-914-]A) IN ASPARTOACYLASE GENE (VOL 11, PG 145, 1994)
Authors: KOLODNY EH SOSA MAG LESHINSKY E DWYER D BATTISTINI S DEGASPERI R
Citation: Eh. Kolodny et al., CANAVAN-DISEASE IN COMPOUND HETEROZYGOTE WITH NOVEL MUTATION (C-914-]A) IN ASPARTOACYLASE GENE (VOL 11, PG 145, 1994), Pediatric neurology, 11(4), 1994, pp. 349-349
DYSMYELINATING AND DEMYELINATING CONDITIONS IN INFANCY
Authors: KOLODNY EH
Citation: Eh. Kolodny, DYSMYELINATING AND DEMYELINATING CONDITIONS IN INFANCY, Current opinion in neurology and neurosurgery, 6(3), 1993, pp. 379-386
ANTISULFATIDE IGG AS A MARKER FOR POTENTIAL NEURODEGENERATION IN HIV-SEROPOSITIVE INDIVIDUALS
Authors: KOLODNY EH DEGASPERI R GAMA MA RAGHAVAN S
Citation: Eh. Kolodny et al., ANTISULFATIDE IGG AS A MARKER FOR POTENTIAL NEURODEGENERATION IN HIV-SEROPOSITIVE INDIVIDUALS, Neurology, 43(4), 1993, pp. 187-187
PREVALENCE OF 9 MUTATIONS AMONG JEWISH AND NON-JEWISH GAUCHER DISEASEPATIENTS
Authors: HOROWITZ M TZURI G EYAL N BEREBI A KOLODNY EH BRADY RO BARTON NW ABRAHAMOV A ZIMRAN A
Citation: M. Horowitz et al., PREVALENCE OF 9 MUTATIONS AMONG JEWISH AND NON-JEWISH GAUCHER DISEASEPATIENTS, American journal of human genetics, 53(4), 1993, pp. 921-930
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