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Results: 1-16 |
Results: 16
SEVERE CHARCOT-MARIE-TOOTH NEUROPATHY TYPE 1A WITH 1-BASE PAIR DELETION AND FRAMESHIFT MUTATION IN THE PERIPHERAL MYELIN PROTEIN-22 GENE
Authors: IONASESCU VV SEARBY CC IONASESCU R REISIN R RUGGIERI V ARBERAS C
Citation: Vv. Ionasescu et al., SEVERE CHARCOT-MARIE-TOOTH NEUROPATHY TYPE 1A WITH 1-BASE PAIR DELETION AND FRAMESHIFT MUTATION IN THE PERIPHERAL MYELIN PROTEIN-22 GENE, Muscle & nerve, 20(10), 1997, pp. 1308-1310
DEJERINE-SOTTAS NEUROPATHY IN MOTHER AND SON WITH SAME POINT MUTATIONOF PMP22 GENE
Authors: IONASESCU VV SEARBY CC IONASESCU R CHATKUPT S PATEL N KOENIGSBERGER R
Citation: Vv. Ionasescu et al., DEJERINE-SOTTAS NEUROPATHY IN MOTHER AND SON WITH SAME POINT MUTATIONOF PMP22 GENE, Muscle & nerve, 20(1), 1997, pp. 97-99
A DEJERINE-SOTTAS NEUROPATHY FAMILY WITH A GENE MAPPED ON CHROMOSOME-8
Authors: IONASESCU VV KIMURA J SEARBY CC SMITH WL ROSS MA IONASESCU R
Citation: Vv. Ionasescu et al., A DEJERINE-SOTTAS NEUROPATHY FAMILY WITH A GENE MAPPED ON CHROMOSOME-8, Muscle & nerve, 19(3), 1996, pp. 319-323
MUTATIONS OF THE NONCODING REGION OF THE CONNEXIN32 GENE IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY
Authors: IONASESCU VV SEARBY C IONASESCU R NEUHAUS IM WERNER R
Citation: Vv. Ionasescu et al., MUTATIONS OF THE NONCODING REGION OF THE CONNEXIN32 GENE IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY, Neurology, 47(2), 1996, pp. 541-544
MUTATIONS OF THE NONCODING REGION OF THE CONNEXIN-32 GENE IN X-LINKEDCHARCOT-MARIE-TOOTH NEUROPATHY
Authors: IONASESCU VV SEARBY C IONASESCU R NEUHAUS I WERNER R
Citation: Vv. Ionasescu et al., MUTATIONS OF THE NONCODING REGION OF THE CONNEXIN-32 GENE IN X-LINKEDCHARCOT-MARIE-TOOTH NEUROPATHY, Neurology, 46(2), 1996, pp. 2010-2010
DEJERINE-SOTTAS DISEASE WITH SENSORINEURAL HEARING-LOSS, NYSTAGMUS, AND PERIPHERAL FACIAL-NERVE WEAKNESS - DE-NOVO DOMINANT POINT MUTATION OF THE PMP22 GENE
Authors: IONASESCU VV SEARBY C GREENBERG SA
Citation: Vv. Ionasescu et al., DEJERINE-SOTTAS DISEASE WITH SENSORINEURAL HEARING-LOSS, NYSTAGMUS, AND PERIPHERAL FACIAL-NERVE WEAKNESS - DE-NOVO DOMINANT POINT MUTATION OF THE PMP22 GENE, Journal of Medical Genetics, 33(12), 1996, pp. 1048-1049
CHARCOT-MARIE-TOOTH NEUROPATHIES - FROM CLINICAL DESCRIPTION TO MOLECULAR-GENETICS
Authors: IONASESCU VV
Citation: Vv. Ionasescu, CHARCOT-MARIE-TOOTH NEUROPATHIES - FROM CLINICAL DESCRIPTION TO MOLECULAR-GENETICS, Muscle & nerve, 18(3), 1995, pp. 267-275
DEJERINE-SOTTAS DISEASE WITH DE-NOVO DOMINANT POINT MUTATION OF THE PMP22 GENE
Authors: IONASESCU VV IONASESCU R SEARBY C NEAHRING R
Citation: Vv. Ionasescu et al., DEJERINE-SOTTAS DISEASE WITH DE-NOVO DOMINANT POINT MUTATION OF THE PMP22 GENE, Neurology, 45(9), 1995, pp. 1766-1767
DEJERINE-SOTTAS NEUROPATHY WITH CHARCOT-JOINTS AND GENE MAPPED ON CHROMOSOME-8
Authors: IONASESCU VV HAYASAKA K KIMURA J SEARBY CC SMITH W IONASESCU R
Citation: Vv. Ionasescu et al., DEJERINE-SOTTAS NEUROPATHY WITH CHARCOT-JOINTS AND GENE MAPPED ON CHROMOSOME-8, American journal of human genetics, 57(4), 1995, pp. 1241-1241
CONSORTIUM FINE LOCALIZATION OF X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - ADDITIONAL SUPPORT THAT CONNEXIN32 IS THE DEFECT IN CMTX1
Authors: PERICAKVANCE MA BARKER DF BERGOFFEN JA CHANCE P COCHRANE S DAHL N EXLER MC FAIN PR FAIRWEATHER ND FISCHBECK K GAL A HAITES N IONASESCU R IONASESCU VV KENNERSON ML MONACO AP MOSTACCUIOLO M NICHOLSON GA SILLEN A HAINES JL
Citation: Ma. Pericakvance et al., CONSORTIUM FINE LOCALIZATION OF X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - ADDITIONAL SUPPORT THAT CONNEXIN32 IS THE DEFECT IN CMTX1, Human heredity, 45(3), 1995, pp. 121-128
CLINICAL AND MORPHOLOGIC FEATURES OF A MYOPATHY ASSOCIATED WITH A POINT MUTATION IN THE MITOCHONDRIAL TRNA(PRO) GENE
Authors: IONASESCU VV HART M DIMAURO S MORAES CT
Citation: Vv. Ionasescu et al., CLINICAL AND MORPHOLOGIC FEATURES OF A MYOPATHY ASSOCIATED WITH A POINT MUTATION IN THE MITOCHONDRIAL TRNA(PRO) GENE, Neurology, 44(5), 1994, pp. 975-977
MUTATION OF THE MYELIN PO GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1B
Authors: HAYASAKA K TAKADA G IONASESCU VV
Citation: K. Hayasaka et al., MUTATION OF THE MYELIN PO GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1B, Human molecular genetics, 2(9), 1993, pp. 1369-1372
SCREENING OF DOMINANTLY INHERITED CHARCOT-MARIE-TOOTH NEUROPATHIES
Authors: IONASESCU VV IONASESCU R SEARBY C
Citation: Vv. Ionasescu et al., SCREENING OF DOMINANTLY INHERITED CHARCOT-MARIE-TOOTH NEUROPATHIES, Muscle & nerve, 16(11), 1993, pp. 1232-1238
IDENTIFICATION OF NOVEL PATHOGENETIC MITOCHONDRIAL-DNA MUTATIONS IN PATIENTS WITH MITOCHONDRIAL ENCEPHALOMYOPATHIES
Authors: MORAES CT CIACCI F BONILLA E JANSEN C IONASESCU VV HIRANO M RAO N LOVELACE RE SCHON EA DIMAURO S
Citation: Ct. Moraes et al., IDENTIFICATION OF NOVEL PATHOGENETIC MITOCHONDRIAL-DNA MUTATIONS IN PATIENTS WITH MITOCHONDRIAL ENCEPHALOMYOPATHIES, Neurology, 43(4), 1993, pp. 401-401
DUCHENNE MUSCULAR-DYSTROPHY - DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN THE SARCOLEMMA
Authors: OHLENDIECK K MATSUMURA K IONASESCU VV TOWBIN JA BOSCH EP WEINSTEIN SL SERNETT SW CAMPBELL KP
Citation: K. Ohlendieck et al., DUCHENNE MUSCULAR-DYSTROPHY - DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN THE SARCOLEMMA, Neurology, 43(4), 1993, pp. 795-800
MITOCHONDRIAL MYOPATHY DUE TO POINT MUTATION OF PROLINE TRANSFER-RNA
Authors: IONASESCU VV HART M MORAES CT DIMAURO S
Citation: Vv. Ionasescu et al., MITOCHONDRIAL MYOPATHY DUE TO POINT MUTATION OF PROLINE TRANSFER-RNA, American journal of human genetics, 53(3), 1993, pp. 1176-1176
Risultati: 1-16 |