AAAAAA

   
Results: 1-17 |
Results: 17
GLYCOGEN-STORAGE-DISEASE TYPE-II - GENETIC AND BIOCHEMICAL-ANALYSIS OF NOVEL MUTATIONS IN INFANTILE PATIENTS FROM TURKISH ANCESTRY
Authors: HERMANS MMP KROOS MA SMEITINK JAM VANDERPLOEG AT KLEIJER WJ REUSER AJJ
Citation: Mmp. Hermans et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - GENETIC AND BIOCHEMICAL-ANALYSIS OF NOVEL MUTATIONS IN INFANTILE PATIENTS FROM TURKISH ANCESTRY, Human mutation, 11(3), 1998, pp. 209-215
IDENTIFICATION OF CONNEXIN43 AS A FUNCTIONAL TARGET FOR WNT SIGNALING
Authors: VANDERHEYDEN MAG ROOK MB HERMANS MMP RIJKSEN G BOONSTRA J DEFIZE LHK DESTREE OHJ
Citation: Mag. Vanderheyden et al., IDENTIFICATION OF CONNEXIN43 AS A FUNCTIONAL TARGET FOR WNT SIGNALING, Journal of Cell Science, 111, 1998, pp. 1741-1749
GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF A DINUCLEOTIDE DELETION AND A COMMON MISSENSE MUTATION IN THE LYSOSOMAL ALPHA-GLUCOSIDASE GENE
Authors: KROOS MA VANLEENEN D VERBIEST J REUSER AJJ HERMANS MMP
Citation: Ma. Kroos et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF A DINUCLEOTIDE DELETION AND A COMMON MISSENSE MUTATION IN THE LYSOSOMAL ALPHA-GLUCOSIDASE GENE, Clinical genetics, 53(5), 1998, pp. 379-382
MUTATION DETECTION IN GLYCOGEN-STORAGE-DISEASE TYPE-II BY RT-PCR AND AUTOMATED SEQUENCING
Authors: HERMANS MMP VANLEENEN D KROOS MA REUSER AJJ
Citation: Mmp. Hermans et al., MUTATION DETECTION IN GLYCOGEN-STORAGE-DISEASE TYPE-II BY RT-PCR AND AUTOMATED SEQUENCING, Biochemical and biophysical research communications, 241(2), 1997, pp. 414-418
THE ROLE OF HISTIDINE-RESIDUES ON PH SENSITIVITY OF THE GAP JUNCTION PROTEIN CONNEXIN-43
Authors: HERMANS MMP KORTEKAAS P JONGSMA HJ ROOK MB
Citation: Mmp. Hermans et al., THE ROLE OF HISTIDINE-RESIDUES ON PH SENSITIVITY OF THE GAP JUNCTION PROTEIN CONNEXIN-43, Molecular biology of the cell, 7, 1996, pp. 528-528
HUMAN ALPHA-N-ACETYLGALACTOSAMINIDASE (ALPHA-NAGA) DEFICIENCY - NEW MUTATIONS AND THE PARADOX BETWEEN GENOTYPE AND PHENOTYPE
Authors: KEULEMANS JLM REUSER AJJ KROOS MA WILLEMSEN R HERMANS MMP VANDENOUWELAND AMW DEJONG JGN WEVERS RA RENIER WO SCHINDLER D COLL MJ CHABAS A SAKURABA H SUZUKI Y VANDIGGELEN OP
Citation: Jlm. Keulemans et al., HUMAN ALPHA-N-ACETYLGALACTOSAMINIDASE (ALPHA-NAGA) DEFICIENCY - NEW MUTATIONS AND THE PARADOX BETWEEN GENOTYPE AND PHENOTYPE, Journal of Medical Genetics, 33(6), 1996, pp. 458-464
THE ROLE OF HISTIDINE-RESIDUES ON PH SENSITIVITY OF THE GAP JUNCTION PROTEIN CONNEXIN-43
Authors: HERMANS MMP KORTEKAAS P JONGSMA HJ ROOK MB
Citation: Mmp. Hermans et al., THE ROLE OF HISTIDINE-RESIDUES ON PH SENSITIVITY OF THE GAP JUNCTION PROTEIN CONNEXIN-43, Circulation, 94(8), 1996, pp. 47-47
DIFFERENTIAL REGULATION OF DISTINCT TYPES OF GAP JUNCTION CHANNELS BYSIMILAR PHOSPHORYLATING CONDITIONS
Authors: KWAK BR HERMANS MMP DEJONGE HR LOHMANN SM JONGSMA HJ CHANSON M
Citation: Br. Kwak et al., DIFFERENTIAL REGULATION OF DISTINCT TYPES OF GAP JUNCTION CHANNELS BYSIMILAR PHOSPHORYLATING CONDITIONS, Molecular biology of the cell, 6(12), 1995, pp. 1707-1719
GLYCOGENOSIS TYPE-II (ACID MALTASE DEFICIENCY)
Authors: REUSER AJJ KROOS MA HERMANS MMP BIJVOET AGA VERBEET MP VANDIGGELEN OP KLEIJER WJ VANDERPLOEG AT
Citation: Ajj. Reuser et al., GLYCOGENOSIS TYPE-II (ACID MALTASE DEFICIENCY), Muscle & nerve, 1995, pp. 61-69
PH SENSITIVITY OF THE CARDIAC GAP JUNCTION PROTEINS, CONNEXIN45 AND CONNEXIN43
Authors: HERMANS MMP KORTEKAAS P JONGSMA HJ ROOK MB
Citation: Mmp. Hermans et al., PH SENSITIVITY OF THE CARDIAC GAP JUNCTION PROTEINS, CONNEXIN45 AND CONNEXIN43, Pflugers Archiv, 431(1), 1995, pp. 138-140
THE ROLE OF HISTIDINE-126 AND HISTIDINE-142 ON PH SENSITIVITY OF CONNEXIN
Authors: TERSTALKORTEKAAS P HERMANS MMP ROOK MB JONGSMA HJ
Citation: P. Terstalkortekaas et al., THE ROLE OF HISTIDINE-126 AND HISTIDINE-142 ON PH SENSITIVITY OF CONNEXIN, Pflugers Archiv, 430(4), 1995, pp. 174-174
CHARACTERIZATION OF GAP FUNCTION CHANNELS IN ADULT-RABBIT ATRIUM AND VENTRICLE
Authors: VERHEULE S HERMANS MMP KWAK BR JONGSMA HJ
Citation: S. Verheule et al., CHARACTERIZATION OF GAP FUNCTION CHANNELS IN ADULT-RABBIT ATRIUM AND VENTRICLE, Pflugers Archiv, 430(4), 1995, pp. 174-174
THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: HERMANS MMP DEGRAAFF E KROOS MA MOHKAMSING S EUSSEN BJ JOOSSE M WILLEMSEN R KLEIJER WJ OOSTRA BA REUSER AJJ
Citation: Mmp. Hermans et al., THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Human molecular genetics, 3(12), 1994, pp. 2213-2218
MODULATION BY PHOSPHORYLATION OF CX32 GAP JUNCTION CHANNELS EXPRESSEDIN SKHEP1 CELLS
Authors: CHANSON N HERMANS MMP JONGSMA HJ
Citation: N. Chanson et al., MODULATION BY PHOSPHORYLATION OF CX32 GAP JUNCTION CHANNELS EXPRESSEDIN SKHEP1 CELLS, Journal of physiology, 479P, 1994, pp. 160000117-160000118
GAP JUNCTIONAL CONDUCTANCES IN SEVERAL MAMMALIAN-CELL LINES SUITABLE FOR TRANSFECTION
Authors: HERMANS MMP CHANSON M ROOK MB TAKENSKWAK BR JONGSMA HJ
Citation: Mmp. Hermans et al., GAP JUNCTIONAL CONDUCTANCES IN SEVERAL MAMMALIAN-CELL LINES SUITABLE FOR TRANSFECTION, Journal of physiology, 479P, 1994, pp. 160000118-160000118
EFFECTS OF TPA ON CX43 GAP JUNCTION CHANNELS
Authors: VANVEEN TAB TAKENSKWAK BR HERMANS MMP CHANSON M JONGSMA HJ
Citation: Tab. Vanveen et al., EFFECTS OF TPA ON CX43 GAP JUNCTION CHANNELS, Journal of physiology, 479P, 1994, pp. 160000118-160000118
2 MUTATIONS AFFECTING THE TRANSPORT AND MATURATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN AN ADULT CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: HERMANS MMP KROOS MA DEGRAAFF E OOSTRA BA REUSER AJJ
Citation: Mmp. Hermans et al., 2 MUTATIONS AFFECTING THE TRANSPORT AND MATURATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN AN ADULT CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-II, Human mutation, 2(4), 1993, pp. 268-273
Risultati: 1-17 |