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Results: 1-25 | 26-50 | 51-75 | 76-76
Results: 1-25/76
IDENTIFICATION OF 5 NEW MUTATIONS AND 3 NOVEL POLYMORPHISMS IN THE MUSCLE CHLORIDE CHANNEL GENE (CLCN1) IN 20 ITALIAN PATIENTS WITH DOMINANT AND RECESSIVE MYOTONIA-CONGENITA
Authors: SANGIUOLO F BOTTA A MESORACA A SERVIDEI S MERLINI L FRATTA G NOVELLI G DALLAPICCOLA B
Citation: F. Sangiuolo et al., IDENTIFICATION OF 5 NEW MUTATIONS AND 3 NOVEL POLYMORPHISMS IN THE MUSCLE CHLORIDE CHANNEL GENE (CLCN1) IN 20 ITALIAN PATIENTS WITH DOMINANT AND RECESSIVE MYOTONIA-CONGENITA, Human mutation, 11(4), 1998, pp. 331-331
MUTATIONS OF THE SAME SEQUENCE OF THE MYELIN P0 GENE CAUSING 2 DIFFERENT PHENOTYPES
Authors: SCHIAVON F RAMPAZZO A MERLINI L ANGELINI C MOSTACCIUOLO ML
Citation: F. Schiavon et al., MUTATIONS OF THE SAME SEQUENCE OF THE MYELIN P0 GENE CAUSING 2 DIFFERENT PHENOTYPES, Human mutation, 1998, pp. 217-219
IMMUNOCYTOCHEMICAL DETECTION OF EMERIN WITHIN THE NUCLEAR MATRIX
Authors: SQUARZONI S SABATELLI P OGNIBENE A TONIOLO D CARTEGNI L COBIANCHI F PETRINI S MERLINI L MARALDI NM
Citation: S. Squarzoni et al., IMMUNOCYTOCHEMICAL DETECTION OF EMERIN WITHIN THE NUCLEAR MATRIX, Neuromuscular disorders, 8(5), 1998, pp. 338-344
HEREDITARY MOTOR AND SENSORY NEUROPATHY LOM TYPE IN AN ITALIAN GYPSY FAMILY
Authors: MERLINI L VILLANOVA M SABATELLI P TROGU A MALANDRINI A YANAKIEV P MARALDI NM KALAYDJIEVA L
Citation: L. Merlini et al., HEREDITARY MOTOR AND SENSORY NEUROPATHY LOM TYPE IN AN ITALIAN GYPSY FAMILY, Neuromuscular disorders, 8(3-4), 1998, pp. 182-185
ORAL EXFOLIATIVE CYTOLOGY FOR THE NONINVASIVE DIAGNOSIS IN X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY PATIENTS AND CARRIERS
Authors: SABATELLI P SQUARZONI S PETRINI S CAPANNI C OGNIBENE A CARTEGNI L COBIANCHI F MERLINI L TONIOLO D MARALDI NM
Citation: P. Sabatelli et al., ORAL EXFOLIATIVE CYTOLOGY FOR THE NONINVASIVE DIAGNOSIS IN X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY PATIENTS AND CARRIERS, Neuromuscular disorders, 8(2), 1998, pp. 67-71
TRANSFERABILITY TO CLINICAL-PRACTICE OF THE RESULTS OF CONTROLLED CLINICAL-TRIALS - THE CASE OF ANTIEMETIC PROPHYLACTIC TREATMENT FOR CANCER CHEMOTHERAPY-INDUCED NAUSEA AND VOMITING
Authors: DELFAVERO A ROILA F DEANGELIS V TONATO M BALLATORI E TUMOLO S MENEGHETTI L NEGRI D DELLAGASPERA S PRESOT C MURAN G LUCENTI A CICCARESE G PALLADINO MA PORROZZI S SABBATINI R DEPENNI R FEDERICO M SILINGARDI V SANSONI E MALTONI M MILANDRI C AMADORI D SABBIONI R NORTILLI R CETTO GL DOGLIOTTI L BUNIVA T GORZEGNO G LOPEZ M AMODIO A CONTI F FOGGI CM GIGLIO A DESIO L MANENTE P BERNARDO G STRADA MR VILLANI G GALLO L MERLINI L CAROTI C MAZZOTTA S FORCIGNANO R QUARTA G PACILIO C IODICE G ROSATI G MALACARNE P DONATI D MACCAFERRI R COMELLA G CASARETTI R CARRECA I RAUSA L FOSSER V SCHIAVON S GIOFFRE FM VENUTI A AMUNNI G VILLANUCCI A CONTU A PAZZOLA A PALMIOTTI G GAROFOLO G EPIFANI C GIORDANO M ANTIMI M MINELLI M DEVITA F DIGRAZIA M CRUCIANI G MONTANARI L MARCHEI P AMICI S ALESSANDRONI P CECCOLINI M CATTANEO MT ORLANDINI B AGOSTARA B MARZI M DIONISI MS DICOSTANZO F TROCCOLI L
Citation: A. Delfavero et al., TRANSFERABILITY TO CLINICAL-PRACTICE OF THE RESULTS OF CONTROLLED CLINICAL-TRIALS - THE CASE OF ANTIEMETIC PROPHYLACTIC TREATMENT FOR CANCER CHEMOTHERAPY-INDUCED NAUSEA AND VOMITING, Annals of oncology, 9(7), 1998, pp. 759-765
CLAVILACTONES - PRECLINICAL EVALUATION OF A NOVEL CLASS OF TYROSINE KINASE INHIBITORS OF FUNGAL ORIGIN
Authors: CASSINELLI G LANZI C POLIZZI D GAMBETTA RA PENSA T MERLINI L NASINI G ZUNINO F
Citation: G. Cassinelli et al., CLAVILACTONES - PRECLINICAL EVALUATION OF A NOVEL CLASS OF TYROSINE KINASE INHIBITORS OF FUNGAL ORIGIN, Annals of oncology, 9, 1998, pp. 417-417
A 3-DIMENSIONAL RECEPTOR MODEL FOR ISOVANILLIC SWEET DERIVATIVES
Authors: BASSOLI A MERLINI L MORINI G VEDANI A
Citation: A. Bassoli et al., A 3-DIMENSIONAL RECEPTOR MODEL FOR ISOVANILLIC SWEET DERIVATIVES, Perkin transactions. 2, (6), 1998, pp. 1449-1454
DOUBLE MISSENSE MUTATION IN EXON-41 OF THE HUMAN DYSTROPHIN GENE DETECTED BY DOUBLE-STRAND CONFORMATION ANALYSIS
Authors: SAAD FA MERLINI L MOSTACCIUOLO ML DANIELI GA
Citation: Fa. Saad et al., DOUBLE MISSENSE MUTATION IN EXON-41 OF THE HUMAN DYSTROPHIN GENE DETECTED BY DOUBLE-STRAND CONFORMATION ANALYSIS, American journal of medical genetics, 80(2), 1998, pp. 99-102
X-LINKED VACUOLATED MYOPATHY - MEMBRANE ATTACK COMPLEX DEPOSITION ON THE SURFACE-MEMBRANE OF INJURED MUSCLE-FIBERS IS NOT ACCOMPANIED BY S-PROTEIN
Authors: LOUBOUTIN JP NAVENOT JM VILLANOVA M ROUGER K MERLINI L FARDEAU M
Citation: Jp. Louboutin et al., X-LINKED VACUOLATED MYOPATHY - MEMBRANE ATTACK COMPLEX DEPOSITION ON THE SURFACE-MEMBRANE OF INJURED MUSCLE-FIBERS IS NOT ACCOMPANIED BY S-PROTEIN, Muscle & nerve, 21(7), 1998, pp. 932-935
LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE
Authors: MERLINI L BAROIS A DEMONTE A ECHENNE B GALLANO P JARRE L KALAYDJIEVA L LEVYGOMES A NAVARRO C TOUTAIN A TURNEV I URTIZBEREA A VALLAT JM VOIT T WARTER JM KAPLAN JC
Citation: L. Merlini et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE, Neurology, 50(4), 1998, pp. 3020-3020
PCR BASED MUTATION SCREENING OF THE LAMININ ALPHA-2 CHAIN GENE (LAMA2) - APPLICATION TO PRENATAL-DIAGNOSIS AND SEARCH FOR FOUNDER EFFECTS IN CONGENITAL MUSCULAR-DYSTROPHY
Authors: GUICHENEY P VIGNIER N ZHANG X HE Y CRUAUD C FREY V HELBLINGLECLERC A RICHARD P ESTOURNET B MERLINI L TOPALOGLU H MORA M HARPEY JP HAENGGELI CA BAROIS A HAINQUE B SCHWARTZ K TOME FMS FARDEAU M TRYGGVASON K
Citation: P. Guicheney et al., PCR BASED MUTATION SCREENING OF THE LAMININ ALPHA-2 CHAIN GENE (LAMA2) - APPLICATION TO PRENATAL-DIAGNOSIS AND SEARCH FOR FOUNDER EFFECTS IN CONGENITAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(3), 1998, pp. 211-217
SWEET ISOVANILLYL DERIVATIVES - SYNTHESIS AND STRUCTURE-TASTE RELATIONSHIPS OF CONFORMATIONALLY RESTRICTED ANALOGS
Authors: ARNOLDI A BASSOLI A BORGONOVO G DREW MGB MERLINI L MORINI G
Citation: A. Arnoldi et al., SWEET ISOVANILLYL DERIVATIVES - SYNTHESIS AND STRUCTURE-TASTE RELATIONSHIPS OF CONFORMATIONALLY RESTRICTED ANALOGS, Journal of agricultural and food chemistry, 46(10), 1998, pp. 4002-4010
HEREDITARY MOTOR AND SENSORY NEUROPATHY - LOM, A NOVEL DEMYELINATING NEUROPATHY ASSOCIATED WITH DEAFNESS IN GYPSIES - CLINICAL, ELECTROPHYSIOLOGICAL AND NERVE BIOPSY FINDINGS
Authors: KALAYDJIEVA L NIKOLOVA A TURNEV I PETROVA J HRISTOVA A ISHPEKOVA B PETKOVA I SHMAROV A STANCHEVA S MIDDLETON L MERLINI L TROGU A MUDDLE JR KING RHM THOMAS PK
Citation: L. Kalaydjieva et al., HEREDITARY MOTOR AND SENSORY NEUROPATHY - LOM, A NOVEL DEMYELINATING NEUROPATHY ASSOCIATED WITH DEAFNESS IN GYPSIES - CLINICAL, ELECTROPHYSIOLOGICAL AND NERVE BIOPSY FINDINGS, Brain, 121, 1998, pp. 399-408
A NOVEL ALU-LIKE ELEMENT REARRANGED IN THE DYSTROPHIN GENE CAUSES A SPLICING MUTATION IN A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY
Authors: FERLINI A GALIE N MERLINI L SEWRY C BRANZI A MUNTONI F
Citation: A. Ferlini et al., A NOVEL ALU-LIKE ELEMENT REARRANGED IN THE DYSTROPHIN GENE CAUSES A SPLICING MUTATION IN A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY, American journal of human genetics, 63(2), 1998, pp. 436-446
IMMUNOFLUORESCENCE STUDY OF A MUSCLE BIOPSY FROM A 1-YEAR-OLD PATIENTWITH WALKER-WARBURG-SYNDROME
Authors: VILLANOVA M SABATELLI P MALANDRINI YHA PETRINI S MARALDI NM MERLINI L
Citation: M. Villanova et al., IMMUNOFLUORESCENCE STUDY OF A MUSCLE BIOPSY FROM A 1-YEAR-OLD PATIENTWITH WALKER-WARBURG-SYNDROME, Acta Neuropathologica, 96(6), 1998, pp. 651-654
IMMUNOLOCALIZATION OF SEVERAL LAMININ CHAINS IN THE NORMAL HUMAN CENTRAL AND PERIPHERAL NERVOUS-SYSTEM
Authors: VILLANOVA M SEWRY C MALANDRINI A TOTI P MUNTONI F MERLINI L TORELLI S TOSI P MARALDI NM GUAZZI GC
Citation: M. Villanova et al., IMMUNOLOCALIZATION OF SEVERAL LAMININ CHAINS IN THE NORMAL HUMAN CENTRAL AND PERIPHERAL NERVOUS-SYSTEM, Journal of submicroscopic cytology and pathology, 29(3), 1997, pp. 409-413
RIGID INTERNAL-FIXATION OF THE JAWS IN AN ADULT PATIENT WITH FACIO-SCAPULO-HUMERAL MUSCULAR-DYSTROPHY - REPORT OF A CASE
Authors: MARCHETTI C BIANCHI A MERLINI L TONELLI P
Citation: C. Marchetti et al., RIGID INTERNAL-FIXATION OF THE JAWS IN AN ADULT PATIENT WITH FACIO-SCAPULO-HUMERAL MUSCULAR-DYSTROPHY - REPORT OF A CASE, Journal of cranio-maxillo-facial surgery, 25(5), 1997, pp. 275-278
HEART-SPECIFIC LOCALIZATION OF EMERIN - NEW INSIGHTS INTO EMERY-DREIFUSS-MUSCULAR-DYSTROPHY
Authors: CARTEGNI L DIBARLETTA MR BARRESI R SQUARZONI S SABATELLI P MARALDI N MORA M DIBLASI C CORNELIO F MERLINI L VILLA A COBIANCHI F TONIOLO D
Citation: L. Cartegni et al., HEART-SPECIFIC LOCALIZATION OF EMERIN - NEW INSIGHTS INTO EMERY-DREIFUSS-MUSCULAR-DYSTROPHY, Human molecular genetics, 6(13), 1997, pp. 2257-2264
GENETICS OF LAMININ ALPHA-2 CHAIN (OR MEROSIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY - FROM IDENTIFICATION OF MUTATIONS TO PRENATAL-DIAGNOSIS
Authors: GUICHENEY P VIGNIER N HELBLINGLECLERC A NISSINEN M ZHANG X CRUAUD C LAMBERT JC RICHELME C TOPALOGLU H MERLINI L BAROIS A SCHWARTZ K TOME FMS TRYGGVASON K FARDEAU M
Citation: P. Guicheney et al., GENETICS OF LAMININ ALPHA-2 CHAIN (OR MEROSIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY - FROM IDENTIFICATION OF MUTATIONS TO PRENATAL-DIAGNOSIS, Neuromuscular disorders, 7(3), 1997, pp. 180-186
INTRACELLULAR DETECTION OF LAMININ ALPHA(2) CHAIN IN SKIN BY ELECTRON-MICROSCOPY IMMUNOCYTOCHEMISTRY - COMPARISON BETWEEN NORMAL AND LAMININ ALPHA(2) CHAIN DEFICIENT SUBJECTS
Authors: SQUARZONI S VILLANOVA M SABATELLI P MALANDRINI A TOTI P PINI A MERLINI L GUAZZI GC MARALDI NM
Citation: S. Squarzoni et al., INTRACELLULAR DETECTION OF LAMININ ALPHA(2) CHAIN IN SKIN BY ELECTRON-MICROSCOPY IMMUNOCYTOCHEMISTRY - COMPARISON BETWEEN NORMAL AND LAMININ ALPHA(2) CHAIN DEFICIENT SUBJECTS, Neuromuscular disorders, 7(2), 1997, pp. 91-98
X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY CAN BE DIAGNOSED FROM SKINBIOPSY OR BLOOD-SAMPLE
Authors: MORA M CARTEGNI L DIBLASI C BARRESI R BIONE S DIBARLETTA MR MORANDI L MERLINI L NIGRO V POLITANO L DONATI MA CORNELIO F COBIANCHI F TONIOLO D
Citation: M. Mora et al., X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY CAN BE DIAGNOSED FROM SKINBIOPSY OR BLOOD-SAMPLE, Annals of neurology, 42(2), 1997, pp. 249-253
DEUTERIUM-ISOTOPE EFFECT ON H-1 AND C-13 CHEMICAL-SHIFTS OF INTRAMOLECULARLY HYDROGEN-BONDED PERYLENEQUINONES
Authors: MAZZINI S MERLINI L MONDELLI R NASINI G RAGG E SCAGLIONI L
Citation: S. Mazzini et al., DEUTERIUM-ISOTOPE EFFECT ON H-1 AND C-13 CHEMICAL-SHIFTS OF INTRAMOLECULARLY HYDROGEN-BONDED PERYLENEQUINONES, Perkin transactions. 2, (10), 1997, pp. 2013-2021
CONSTITUENTS OF DRAGON BLOOD .5. DRACOFLAVANS B-1, B-2, C-1, C-2, D-1, AND D-2, NEW A-TYPE DEOXYPROANTHOCYANIDINS
Authors: ARNONE A NASINI G DEPAVA OV MERLINI L
Citation: A. Arnone et al., CONSTITUENTS OF DRAGON BLOOD .5. DRACOFLAVANS B-1, B-2, C-1, C-2, D-1, AND D-2, NEW A-TYPE DEOXYPROANTHOCYANIDINS, Journal of natural products, 60(10), 1997, pp. 971-975
ALKALOIDS OF UNCARIA-ELLIPTICA
Authors: DIYABALANAGE TKK KUMARIHAMY BMM WANNIGAMA GP JAYASINGHE L MERLINI L SCAGLIONI L
Citation: Tkk. Diyabalanage et al., ALKALOIDS OF UNCARIA-ELLIPTICA, Phytochemistry, 45(8), 1997, pp. 1731-1732
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