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Results: 1-25 | 26-32
Results: 1-25/32
HUMAN MEIOTIC RECOMBINATION PRODUCTS REVEALED BY SEQUENCING A HOTSPOTFOR HOMOLOGOUS STRAND EXCHANGE IN MULTIPLE HNPP DELETION PATIENTS
Authors: REITER LT HASTINGS PJ NELIS E DEJONGHE P VANBROECKHOVEN C LUPSKI JR
Citation: Lt. Reiter et al., HUMAN MEIOTIC RECOMBINATION PRODUCTS REVEALED BY SEQUENCING A HOTSPOTFOR HOMOLOGOUS STRAND EXCHANGE IN MULTIPLE HNPP DELETION PATIENTS, American journal of human genetics, 62(5), 1998, pp. 1023-1033
AN ADHESION TEST SYSTEM BASED ON SCHNEIDER CELLS TO DETERMINE GENOTYPE-PHENOTYPE CORRELATIONS FOR MUTATED P0 PROTEINS
Authors: EKICI AB FUCHS C NELIS E HILLENBRAND R SCHACHNER M VANBROECKHOVEN C RAUTENSTRAUSS B
Citation: Ab. Ekici et al., AN ADHESION TEST SYSTEM BASED ON SCHNEIDER CELLS TO DETERMINE GENOTYPE-PHENOTYPE CORRELATIONS FOR MUTATED P0 PROTEINS, GENET A-BIO, 14(4), 1998, pp. 117-119
ASSAY OF TRANSFECTION RATE IN INSECT CELLS ON A SINGLE-CELL LEVEL
Authors: RAUTENSTRAUSS B FUCHS C EKICI A NELIS E VANBROECKHOVEN C LIEHR T
Citation: B. Rautenstrauss et al., ASSAY OF TRANSFECTION RATE IN INSECT CELLS ON A SINGLE-CELL LEVEL, GENET A-BIO, 14(3), 1998, pp. 103-104
ABSENCE OF MUTATIONS IN PERIPHERAL MYELIN PROTEIN-22, MYELIN PROTEIN ZERO, AND CONNEXIN-32 IN AUTOSOMAL RECESSIVE DEJERINE-SOTTAS-SYNDROME
Authors: STOGBAUER F YOUNG P WIEBUSCH H TIMMERMAN V KUHLENBAUMER G NELIS E RINGELSTEIN EB KURLEMANN G ASSMANN G VANBROECKHOVEN C FUNKE H
Citation: F. Stogbauer et al., ABSENCE OF MUTATIONS IN PERIPHERAL MYELIN PROTEIN-22, MYELIN PROTEIN ZERO, AND CONNEXIN-32 IN AUTOSOMAL RECESSIVE DEJERINE-SOTTAS-SYNDROME, Neuroscience letters, 240(1), 1998, pp. 1-4
MUTATION ANALYSIS OF THE NERVE SPECIFIC PROMOTER OF THE PERIPHERAL MYELIN PROTEIN-22 GENE IN CMT1 DISEASE AND HNPP
Authors: NELIS E DEJONGHE P DEVRIENDT E PATEL PI MARTIN JJ VANBROECKHOVEN C
Citation: E. Nelis et al., MUTATION ANALYSIS OF THE NERVE SPECIFIC PROMOTER OF THE PERIPHERAL MYELIN PROTEIN-22 GENE IN CMT1 DISEASE AND HNPP, Journal of Medical Genetics, 35(7), 1998, pp. 590-593
PMP22 THR(118)MET - RECESSIVE CMT1 MUTATION OR POLYMORPHISM
Authors: NELIS E HOLMBERG B ADOLFSSON R HOLMGREN G VANBROECKHOVEN C
Citation: E. Nelis et al., PMP22 THR(118)MET - RECESSIVE CMT1 MUTATION OR POLYMORPHISM, Nature genetics, 15(1), 1997, pp. 13-14
MUTATION ANALYSIS OF THE CONNEXIN-32 (CX32) GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1 - IDENTIFICATION OF 5 NEW MUTATIONS
Authors: NELIS E SIMOKOVIC S TIMMERMAN V LOFGREN A BACKHOVENS H DEJONGHE P MARTIN JJ VANBROECKHOVEN C
Citation: E. Nelis et al., MUTATION ANALYSIS OF THE CONNEXIN-32 (CX32) GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1 - IDENTIFICATION OF 5 NEW MUTATIONS, Human mutation, 9(1), 1997, pp. 47-52
ADVANCES IN CHARCOT-MARIE-TOOTH-DISEASE RESEARCH - CELLULAR FUNCTION OF CMT-RELATED PROTEINS, TRANSGENIC ANIMAL-MODELS, AND PATHOMECHANISMS
Authors: MULLER HW SUTER U VANBROECKHOVEN C HANEMAN O NELIS E TIMMERMAN V SANCHO S BARRIO L BOLHUIS P DERMIETZEL R FRANK M GABREELSFESTEN A GILLEN C HAITES N LEVI G MARIMAN E MARTINI R NAVE K RAUTENSTRAUSS B SCHACHNER M SCHENONE A SCHNEIDER C SCHRODER M WILLECKE K
Citation: Hw. Muller et al., ADVANCES IN CHARCOT-MARIE-TOOTH-DISEASE RESEARCH - CELLULAR FUNCTION OF CMT-RELATED PROTEINS, TRANSGENIC ANIMAL-MODELS, AND PATHOMECHANISMS, Neurobiology of disease, 4(3-4), 1997, pp. 215-220
MUTATIONAL ANALYSIS OF THE MPZ, PMP22 AND CX32 GENES IN PATIENTS OF SPANISH ANCESTRY WITH CHARCOT-MARIE-TOOTH-DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: BORT S NELIS E TIMMERMAN V SEVILLA T CRUZMARTINEZ A MARTINEZ F MILLAN JM ARPA J VILCHEZ JJ PRIETO F VANBROECKHOVEN C PALAU F
Citation: S. Bort et al., MUTATIONAL ANALYSIS OF THE MPZ, PMP22 AND CX32 GENES IN PATIENTS OF SPANISH ANCESTRY WITH CHARCOT-MARIE-TOOTH-DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Human genetics, 99(6), 1997, pp. 746-754
FURTHER EVIDENCE SUPPORTING LINKAGE OF HEREDITARY NEURALGIC AMYOTROPHY TO CHROMOSOME 17Q
Authors: WEHNERT M TIMMERMAN V SPOELDERS P MEULEMAN J NELIS E VANBROECKHOVEN C
Citation: M. Wehnert et al., FURTHER EVIDENCE SUPPORTING LINKAGE OF HEREDITARY NEURALGIC AMYOTROPHY TO CHROMOSOME 17Q, Neurology, 48(6), 1997, pp. 1719-1721
DETECTION OF THE CMT1A HNPP RECOMBINATION HOTSPOT IN UNRELATED PATIENTS OF EUROPEAN DESCENT/
Authors: TIMMERMAN V RAUTENSTRAUSS B REITER LT KOEUTH T LOFGREN A LIEHR T NELIS E BATHKE KD DEJONGHE P GREHL H MARTIN JJ LUPSKI JR VANBROECKHOVEN C
Citation: V. Timmerman et al., DETECTION OF THE CMT1A HNPP RECOMBINATION HOTSPOT IN UNRELATED PATIENTS OF EUROPEAN DESCENT/, Journal of Medical Genetics, 34(1), 1997, pp. 43-49
MOLECULAR-GENETIC ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 (CMT2) FAMILIES WITH CHROMOSOME 1P35-36 AND 3Q13-22 MARKERS
Authors: SPOELDERS P LOFGREN A DEJONGHE P NELIS E MARTIN JJ VANBROECKHOVEN C TIMMERMAN V
Citation: P. Spoelders et al., MOLECULAR-GENETIC ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 (CMT2) FAMILIES WITH CHROMOSOME 1P35-36 AND 3Q13-22 MARKERS, Archives of physiology and biochemistry, 104(3), 1996, pp. 51-51
A DE-NOVO DUPLICATION IN 17P11.2 AND A NOVEL MUTATION IN THE P-O GENEIN 2 DEJERINE-SOTTAS SYNDROME PATIENTS
Authors: SILANDER K MERETOJA P NELIS E TIMMERMAN V VANBROECKHOVEN C AULA P SAVONTAUS ML
Citation: K. Silander et al., A DE-NOVO DUPLICATION IN 17P11.2 AND A NOVEL MUTATION IN THE P-O GENEIN 2 DEJERINE-SOTTAS SYNDROME PATIENTS, Human mutation, 8(4), 1996, pp. 304-310
IDENTIFICATION OF A 4 BP DELETION (1560DEL4) IN PO GENE IN A FAMILY WITH SEVERE CHARCOT-MARIE-TOOTH DISEASE
Authors: BELLONE E MANDICH P JAMES R NELIS E LAMBA LD VANBROECKHOVEN C AJMAR F
Citation: E. Bellone et al., IDENTIFICATION OF A 4 BP DELETION (1560DEL4) IN PO GENE IN A FAMILY WITH SEVERE CHARCOT-MARIE-TOOTH DISEASE, Human mutation, 7(4), 1996, pp. 377-378
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
ESTIMATION OF THE MUTATION FREQUENCIES IN CHARCOT-MARIE-TOOTH DISEASETYPE-1 AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES -A EUROPEAN COLLABORATIVE STUDY
Authors: NELIS E VANBROECKHOVEN C
Citation: E. Nelis et C. Vanbroeckhoven, ESTIMATION OF THE MUTATION FREQUENCIES IN CHARCOT-MARIE-TOOTH DISEASETYPE-1 AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES -A EUROPEAN COLLABORATIVE STUDY, European journal of human genetics, 4(1), 1996, pp. 25-33
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II (DISTAL HMN-II) - MAPPING OF A LOCUS TO CHROMOSOME 12Q24
Authors: TIMMERMAN V DEJONGHE P SIMOKOVIC S LOFGREN A BEUTEN J NELIS E CEUTERICK C MARTIN JJ VANBROECKHOVEN C
Citation: V. Timmerman et al., DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II (DISTAL HMN-II) - MAPPING OF A LOCUS TO CHROMOSOME 12Q24, Human molecular genetics, 5(7), 1996, pp. 1065-1069
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
2 DIVERGENT TYPES OF NERVE PATHOLOGY IN PATIENTS WITH DIFFERENT P-0 MUTATIONS IN CHARCOT-MARIE-TOOTH DISEASE
Authors: GABREELSFESTEN AAWM HOOGENDIJK JE MEIJERINK PHS GABREELS FJM BOLHUIS PA VANBEERSUM S KULKENS T NELIS E JENNEKENS FGI DEVISSER M VANENGELEN BGM VANBROECKHOVEN C MARIMAN ECM
Citation: Aawm. Gabreelsfesten et al., 2 DIVERGENT TYPES OF NERVE PATHOLOGY IN PATIENTS WITH DIFFERENT P-0 MUTATIONS IN CHARCOT-MARIE-TOOTH DISEASE, Neurology, 47(3), 1996, pp. 761-765
LINKAGE AND MUTATION ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 FAMILIES WITH CHROMOSOMES 1P35-P36 AND XQ13
Authors: TIMMERMAN V DEJONGHE P SPOELDERS P SIMOKOVIC S LOFGREN A NELIS E VANCE J MARTIN JJ VANBROECKHOVEN C
Citation: V. Timmerman et al., LINKAGE AND MUTATION ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 FAMILIES WITH CHROMOSOMES 1P35-P36 AND XQ13, Neurology, 46(5), 1996, pp. 1311-1318
MUTATIONS IN THE MYELIN PROTEIN ZERO GENE ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B
Authors: LATOUR P BLANQUET F NELIS E BONNEBOUCHE C CHAPON F DIRAISON P OLLAGNON E DAUTIGNY A PHAMDINH D CHAZOT G BOUCHERAT M VANBROECKHOVEN C VANDENBERGHE A
Citation: P. Latour et al., MUTATIONS IN THE MYELIN PROTEIN ZERO GENE ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B, Human mutation, 6(1), 1995, pp. 50-54
MOLECULAR ANALYSIS OF 3 CASES WITH HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH MYELIN OUTFOLDING
Authors: JAMES R BELLONE E NELIS E MANDICH P SCHENONE A MANCARDI G VANBROECKHOVEN C ABBRUZZESE M AJMAR F
Citation: R. James et al., MOLECULAR ANALYSIS OF 3 CASES WITH HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH MYELIN OUTFOLDING, Neuroscience letters, 194(1-2), 1995, pp. 136-138
PRENATAL-DIAGNOSIS OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A) USING MOLECULAR-GENETIC TECHNIQUES
Authors: NAVON R TIMMERMAN V LOFGREN A LIANG P NELIS E ZEITUNE M VANBROECKHOVEN C
Citation: R. Navon et al., PRENATAL-DIAGNOSIS OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A) USING MOLECULAR-GENETIC TECHNIQUES, Prenatal diagnosis, 15(7), 1995, pp. 633-640
ASSESSMENT OF THE MUTATION FREQUENCIES IN CHARCOT-MARIE-TOOTH DISEASETYPE-1 (CMT1) AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - A EUROPEAN COLLABORATIVE STUDY
Authors: NELIS E VANBROECKHOVEN C
Citation: E. Nelis et C. Vanbroeckhoven, ASSESSMENT OF THE MUTATION FREQUENCIES IN CHARCOT-MARIE-TOOTH DISEASETYPE-1 (CMT1) AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - A EUROPEAN COLLABORATIVE STUDY, American journal of human genetics, 57(4), 1995, pp. 1282-1282
IDENTIFICATION OF A DE-NOVO INSERTIONAL MUTATION IN P-O IN A PATIENT WITH A DEJERINE-SOTTAS SYNDROME (DSS) PHENOTYPE
Authors: RAUTENSTRAUSS B NELIS E GREHL H PFEIFFER RA VANBROECKHOVEN C
Citation: B. Rautenstrauss et al., IDENTIFICATION OF A DE-NOVO INSERTIONAL MUTATION IN P-O IN A PATIENT WITH A DEJERINE-SOTTAS SYNDROME (DSS) PHENOTYPE, Human molecular genetics, 3(9), 1994, pp. 1701-1702
Risultati: 1-25 | 26-32