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Results: 1-14 |
Results: 14
NOVEL TRANSTHYRETIN MISSENSE MUTATION (THR34) IN AN ITALIAN FAMILY WITH HEREDITARY AMYLOIDOSIS
Authors: PATROSSO MC SALVI F DEGRANDIS D VEZZONI P JACOBSON DR FERLINI A
Citation: Mc. Patrosso et al., NOVEL TRANSTHYRETIN MISSENSE MUTATION (THR34) IN AN ITALIAN FAMILY WITH HEREDITARY AMYLOIDOSIS, American journal of medical genetics, 77(2), 1998, pp. 135-138
ELECTROMYOGRAPHIC FINDINGS IN TRANSTHYRETIN (TTR)-RELATED FAMILIAL AMYLOID POLYNEUROPATHY (FAP)
Authors: MONTAGNA P MARCHELLO L PLASMATI R FERLINI A PATROSSO MC SALVI F
Citation: P. Montagna et al., ELECTROMYOGRAPHIC FINDINGS IN TRANSTHYRETIN (TTR)-RELATED FAMILIAL AMYLOID POLYNEUROPATHY (FAP), ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY, 101(5), 1996, pp. 423-430
ELECTROPHORETIC SEPARATION OF BIOPOLYMERS IN A MATRIX OF POLYACRYLAMIDE COVALENTLY-LINKED TO AGAROSE
Authors: CHIARI M CAMPOLEONI A CONTI P FELLI C PATROSSO MC BROGREN CH
Citation: M. Chiari et al., ELECTROPHORETIC SEPARATION OF BIOPOLYMERS IN A MATRIX OF POLYACRYLAMIDE COVALENTLY-LINKED TO AGAROSE, Electrophoresis, 17(3), 1996, pp. 473-478
X-LINKED BULBAR AND SPINAL MUSCULAR-ATROPHY, OR KENNEDY DISEASE - CLINICAL, NEUROPHYSIOLOGICAL, NEUROPATHOLOGICAL, NEUROPSYCHOLOGICAL AND MOLECULAR STUDY OF A LARGE FAMILY
Authors: GUIDETTI D VESCOVINI E MOTTI L GHIDONI E GEMIGNANI F MARBINI A PATROSSO MC FERLINI A SOLIME F
Citation: D. Guidetti et al., X-LINKED BULBAR AND SPINAL MUSCULAR-ATROPHY, OR KENNEDY DISEASE - CLINICAL, NEUROPHYSIOLOGICAL, NEUROPATHOLOGICAL, NEUROPSYCHOLOGICAL AND MOLECULAR STUDY OF A LARGE FAMILY, Journal of the neurological sciences, 135(2), 1996, pp. 140-148
HOMOZYGOSITY AND HETEROZYGOSITY FOR THE TRANSTHYRETIN LEU64 MUTATION - CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS
Authors: FERLINI A SALVI F UNCINI A ELCHAMI J WINTER P ALTLAND K REPETTO M LITTARDI M CAMPOLEONI A VEZZONI P PATROSSO MC
Citation: A. Ferlini et al., HOMOZYGOSITY AND HETEROZYGOSITY FOR THE TRANSTHYRETIN LEU64 MUTATION - CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS, Clinical genetics, 49(1), 1996, pp. 10-14
X-LINKED THROMBOCYTOPENIA AND WISKOTT-ALDRICH SYNDROME ARE ALLELIC DISEASES WITH MUTATIONS IN THE WASP GENE
Authors: VILLA A NOTARANGELO L MACCHI P MANTUANO E CAVAGNI G BRUGNONI D STRINA D PATROSSO MC RAMENGHI U SACCO MG UGAZIO A VEZZONI P
Citation: A. Villa et al., X-LINKED THROMBOCYTOPENIA AND WISKOTT-ALDRICH SYNDROME ARE ALLELIC DISEASES WITH MUTATIONS IN THE WASP GENE, Nature genetics, 9(4), 1995, pp. 414-417
AN ITALIAN KINDRED WITH CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITHSUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)
Authors: RAGNO M TOURNIERLASSERVE E FIORI MG MANCA A PATROSSO MC FERLINI A SIROCCHI G TROJANO L CHABRIAT H SALVI F
Citation: M. Ragno et al., AN ITALIAN KINDRED WITH CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITHSUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL), Annals of neurology, 38(2), 1995, pp. 231-236
ANDROGEN RECEPTOR GENE (CAG)N REPEAT ANALYSIS IN THE DIFFERENTIAL-DIAGNOSIS BETWEEN KENNEDY DISEASE AND OTHER MOTONEURON DISORDERS
Authors: FERLINI A PATROSSO MC GUIDETTI D MERLINI L UNCINI A RAGNO M PLASMATI R FINI S REPETTO M VEZZONI P FORABOSCO A
Citation: A. Ferlini et al., ANDROGEN RECEPTOR GENE (CAG)N REPEAT ANALYSIS IN THE DIFFERENTIAL-DIAGNOSIS BETWEEN KENNEDY DISEASE AND OTHER MOTONEURON DISORDERS, American journal of medical genetics, 55(1), 1995, pp. 105-111
A NEW MUTATION (TTR ALA-47) IN THE TRANSTHYRETIN GENE ASSOCIATED WITHHEREDITARY AMYLOIDOSIS
Authors: FERLINI A PATROSSO MC REPETTO M FRATTINI A VILLA A FINI S SALVI F VEZZONI P FORABOSCO A
Citation: A. Ferlini et al., A NEW MUTATION (TTR ALA-47) IN THE TRANSTHYRETIN GENE ASSOCIATED WITHHEREDITARY AMYLOIDOSIS, Human mutation, 4(1), 1994, pp. 61-64
C TO T MUTATION CAUSING PREMATURE TERMINATION OF CD40 LIGAND AT AMINO-ACID 221 IN A PATIENT AFFECTED BY HYPER IGM SYNDROME
Authors: VILLA A STRINA D MACCHI P PATROSSO MC VEZZONI P TOVO PA GILIANI S UGAZIO AG NOTARANGELO LD
Citation: A. Villa et al., C TO T MUTATION CAUSING PREMATURE TERMINATION OF CD40 LIGAND AT AMINO-ACID 221 IN A PATIENT AFFECTED BY HYPER IGM SYNDROME, Human mutation, 3(1), 1994, pp. 73-75
GENOMIC ORGANIZATION OF THE HUMAN VP16 ACCESSORY PROTEIN, A HOUSEKEEPING GENE (HCFC1) MAPPING TO XQ28
Authors: FRATTINI A FARANDA S REDOLFI E ZUCCHI I VILLA A PATROSSO MC STRINA D SUSANI L VEZZONI P
Citation: A. Frattini et al., GENOMIC ORGANIZATION OF THE HUMAN VP16 ACCESSORY PROTEIN, A HOUSEKEEPING GENE (HCFC1) MAPPING TO XQ28, Genomics, 23(1), 1994, pp. 30-35
THE EXON-INTRON ORGANIZATION OF THE HUMAN X-LINKED GENE (FLN1) ENCODING ACTIN-BINDING PROTEIN-280
Authors: PATROSSO MC REPETTO M VILLA A MILANESI L FRATTINI A FARANDA S MANCINI M MAESTRINI E TONIOLO D VEZZONI P
Citation: Mc. Patrosso et al., THE EXON-INTRON ORGANIZATION OF THE HUMAN X-LINKED GENE (FLN1) ENCODING ACTIN-BINDING PROTEIN-280, Genomics, 21(1), 1994, pp. 71-76
CAPILLARY ELECTROPHORESIS OF POLYMERASE CHAIN REACTION-AMPLIFIED PRODUCTS IN POLYMER NETWORKS - THE CASE OF KENNEDYS DISEASE
Authors: NESI M RIGHETTI PG PATROSSO MC FERLINI A CHIARI M
Citation: M. Nesi et al., CAPILLARY ELECTROPHORESIS OF POLYMERASE CHAIN REACTION-AMPLIFIED PRODUCTS IN POLYMER NETWORKS - THE CASE OF KENNEDYS DISEASE, Electrophoresis, 15(5), 1994, pp. 644-646
ZNF75 - ISOLATION OF A CDNA CLONE OF THE KRAB ZINC-FINGER GENE SUBFAMILY IN YACS 1 MB TELOMERIC OF HPRT
Authors: VILLA A ZUCCHI I STRINA D PATROSSO MC REPETTO M PILIA G FRATTINI A SUSANI T VEZZONI P
Citation: A. Villa et al., ZNF75 - ISOLATION OF A CDNA CLONE OF THE KRAB ZINC-FINGER GENE SUBFAMILY IN YACS 1 MB TELOMERIC OF HPRT, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 191-191
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