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Results: 1-11 |
Results: 11
MUTATIONS IN THE EARLY GROWTH-RESPONSE-2 (EGR2) GENE ARE ASSOCIATED WITH HEREDITARY MYELINOPATHIES
Authors: WARNER LE MANCIAS P BUTLER IJ MCDONALD CM KEPPEN L KOOB KG LUPSKI JR
Citation: Le. Warner et al., MUTATIONS IN THE EARLY GROWTH-RESPONSE-2 (EGR2) GENE ARE ASSOCIATED WITH HEREDITARY MYELINOPATHIES, Nature genetics, 18(4), 1998, pp. 382-384
UNUSUAL ELECTROPHYSIOLOGICAL FINDINGS IN A FAMILY WITH CMTX
Authors: GUTIERREZ A ENGLAND JD FERER SS SUMNER AJ WARNER LE LUPSKI JR GARCIA CA
Citation: A. Gutierrez et al., UNUSUAL ELECTROPHYSIOLOGICAL FINDINGS IN A FAMILY WITH CMTX, Neurology, 50(4), 1998, pp. 8005-8005
MULTIPLE DE-NOVO MPZ (P-0) POINT MUTATIONS IN A SPORADIC DEJERINE-SOTTAS CASE
Authors: WARNER LE SHOHAT M SHORER Z LUPSKI JR
Citation: Le. Warner et al., MULTIPLE DE-NOVO MPZ (P-0) POINT MUTATIONS IN A SPORADIC DEJERINE-SOTTAS CASE, Human mutation, 10(1), 1997, pp. 21-24
MUTATION IN THE EARLY GROWTH-RESPONSE-2 (EGR2) TRANSCRIPTION FACTOR ASSOCIATED WITH RECESSIVE CONGENITAL HYPOMYELINATING NEUROPATHY (CHN)
Authors: WARNER LE MANCIAS P BUTLER I LUPSKI JR
Citation: Le. Warner et al., MUTATION IN THE EARLY GROWTH-RESPONSE-2 (EGR2) TRANSCRIPTION FACTOR ASSOCIATED WITH RECESSIVE CONGENITAL HYPOMYELINATING NEUROPATHY (CHN), American journal of human genetics, 61(4), 1997, pp. 2049-2049
ABSENCE OF PMP22 CODING REGION MUTATIONS IN CMT1A DUPLICATION PATIENTS - FURTHER EVIDENCE SUPPORTING GENE DOSAGE AS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
Authors: WARNER LE ROA BB LUPSKI JR
Citation: Le. Warner et al., ABSENCE OF PMP22 CODING REGION MUTATIONS IN CMT1A DUPLICATION PATIENTS - FURTHER EVIDENCE SUPPORTING GENE DOSAGE AS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE 1A, Human mutation, 8(4), 1996, pp. 362-365
MYELIN PROTEIN ZERO (MPZ) GENE-MUTATIONS IN NONDUPLICATION TYPE-1 CHARCOT-MARIE-TOOTH DISEASE
Authors: ROA BB WARNER LE GARCIA CA RUSSO D LOVELACE R CHANCE PF LUPSKI JR
Citation: Bb. Roa et al., MYELIN PROTEIN ZERO (MPZ) GENE-MUTATIONS IN NONDUPLICATION TYPE-1 CHARCOT-MARIE-TOOTH DISEASE, Human mutation, 7(1), 1996, pp. 36-45
COMPARISON OF SINGLE-STRAND CONFORMATION POLYMORPHISM AND HETERODUPLEX ANALYSIS FOR DETECTION OF MUTATIONS IN CHARCOT-MARIE-TOOTH TYPE-1 DISEASE AND RELATED PERIPHERAL NEUROPATHIES
Authors: NELIS E WARNER LE DEVRIENDT E CHANCE PF LUPSKI JR VANBROECKHOVEN C
Citation: E. Nelis et al., COMPARISON OF SINGLE-STRAND CONFORMATION POLYMORPHISM AND HETERODUPLEX ANALYSIS FOR DETECTION OF MUTATIONS IN CHARCOT-MARIE-TOOTH TYPE-1 DISEASE AND RELATED PERIPHERAL NEUROPATHIES, European journal of human genetics, 4(6), 1996, pp. 329-333
CLINICAL PHENOTYPES OF DIFFERENT MPZ (P-0) MUTATIONS MAY INCLUDE CHARCOT-MARIE-TOOTH TYPE 1B, DEJERINE-SOTTAS, AND CONGENITAL HYPOMYELINATION
Authors: WARNER LE HILZ MJ APPEL SH KILLIAN JM KOLODNY EH KARPATI G CARPENTER S WATTERS GV WHEELER C WITT D BODELL A NELIS E VANBROECKHOVEN C LUPSKI JR
Citation: Le. Warner et al., CLINICAL PHENOTYPES OF DIFFERENT MPZ (P-0) MUTATIONS MAY INCLUDE CHARCOT-MARIE-TOOTH TYPE 1B, DEJERINE-SOTTAS, AND CONGENITAL HYPOMYELINATION, Neuron, 17(3), 1996, pp. 451-460
MOLECULAR MECHANISMS FOR CHARCOT-MARIE-TOOTH-DISEASE AND RELATED DEMYELINATING PERIPHERAL NEUROPATHIES
Authors: WARNER LE REITER LT MURAKAMI T LUPSKI JR
Citation: Le. Warner et al., MOLECULAR MECHANISMS FOR CHARCOT-MARIE-TOOTH-DISEASE AND RELATED DEMYELINATING PERIPHERAL NEUROPATHIES, Cold Spring Harbor Symposia on Quantitative Biology, 61, 1996, pp. 659-671
SETTLING THE MYELIN PROTEIN ZERO QUESTION IN CMT1B
Authors: WARNER LE ROA BB LUPSKI JR
Citation: Le. Warner et al., SETTLING THE MYELIN PROTEIN ZERO QUESTION IN CMT1B, Nature genetics, 11(2), 1995, pp. 119-120
PMP22 GENE DOSAGE AS A MECHANISM FOR CMT1A
Authors: WARNER LE ROA BB LUPSKI JR
Citation: Le. Warner et al., PMP22 GENE DOSAGE AS A MECHANISM FOR CMT1A, American journal of human genetics, 57(4), 1995, pp. 1471-1471
Risultati: 1-11 |