PROTEOLIPID PROTEIN GENE DOSAGE EFFECT IN PELIZAEUS-MERZBACHER DISEASE

[1] THE LEUKODYSTROPHIES - A WINDOW TO MYELIN [J]. NATURE GENETICS, 1993, 5 (02) : 105 - 106

[2] TRISOMY-17P ASSOCIATED WITH CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1A PHENOTYPE - EVIDENCE FOR GENE DOSAGE AS A MECHANISM IN CMT1A [J]. NEUROLOGY, 1992, 42 (12) : 2295 - 2299

[3] AN INTERSTITIAL DUPLICATION OF THE X-CHROMOSOME IN A MALE ALLOWS PHYSICAL FINE MAPPING OF PROBES FROM THE XQ13-Q22 REGION [J]. HUMAN GENETICS, 1987, 77 (01) : 23 - 27

[4] CREMERS FPM, 1988, AM J HUM GENET, V43, P452

[5] MUTATION OF THE PROTEOLIPID PROTEIN GENE PLP IN A HUMAN X CHROMOSOME-LINKED MYELIN DISORDER [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (20) : 8128 - 8131

[6] GENE DOSAGE IS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE-1A [J]. NATURE GENETICS, 1992, 1 (01) : 29 - 33

[7] PERIPHERAL MYELIN PROTEIN-22 GENE MAPS IN THE DUPLICATION IN CHROMOSOME-17P11.2 ASSOCIATED WITH CHARCOT-MARIE-TOOTH-1A [J]. NATURE GENETICS, 1992, 1 (03) : 176 - 179

[8] PELIZAEUS-MERZBACHER DISEASE - A VALINE TO PHENYLALANINE POINT MUTATION IN A PUTATIVE EXTRACELLULAR LOOP OF MYELIN PROTEOLIPID [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (17) : 7562 - 7566

[9] A NEW MUTATION IN THE PROTEOLIPID PROTEIN(PLP) GENE IN A GERMAN FAMILY WITH PELIZAEUS-MERZBACHER DISEASE [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (01): : 136 - 139

[10] CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - ASSOCIATION WITH A SPONTANEOUS POINT MUTATION IN THE PMP22 GENE [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1993, 329 (02) : 96 - 101

[1] THE LEUKODYSTROPHIES - A WINDOW TO MYELIN [J]. NATURE GENETICS, 1993, 5 (02) : 105 - 106

[2] TRISOMY-17P ASSOCIATED WITH CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1A PHENOTYPE - EVIDENCE FOR GENE DOSAGE AS A MECHANISM IN CMT1A [J]. NEUROLOGY, 1992, 42 (12) : 2295 - 2299

[3] AN INTERSTITIAL DUPLICATION OF THE X-CHROMOSOME IN A MALE ALLOWS PHYSICAL FINE MAPPING OF PROBES FROM THE XQ13-Q22 REGION [J]. HUMAN GENETICS, 1987, 77 (01) : 23 - 27

[4] CREMERS FPM, 1988, AM J HUM GENET, V43, P452

[5] MUTATION OF THE PROTEOLIPID PROTEIN GENE PLP IN A HUMAN X CHROMOSOME-LINKED MYELIN DISORDER [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (20) : 8128 - 8131

[6] GENE DOSAGE IS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE-1A [J]. NATURE GENETICS, 1992, 1 (01) : 29 - 33

[7] PERIPHERAL MYELIN PROTEIN-22 GENE MAPS IN THE DUPLICATION IN CHROMOSOME-17P11.2 ASSOCIATED WITH CHARCOT-MARIE-TOOTH-1A [J]. NATURE GENETICS, 1992, 1 (03) : 176 - 179

[8] PELIZAEUS-MERZBACHER DISEASE - A VALINE TO PHENYLALANINE POINT MUTATION IN A PUTATIVE EXTRACELLULAR LOOP OF MYELIN PROTEOLIPID [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (17) : 7562 - 7566

[9] A NEW MUTATION IN THE PROTEOLIPID PROTEIN(PLP) GENE IN A GERMAN FAMILY WITH PELIZAEUS-MERZBACHER DISEASE [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (01): : 136 - 139

[10] CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - ASSOCIATION WITH A SPONTANEOUS POINT MUTATION IN THE PMP22 GENE [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1993, 329 (02) : 96 - 101