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Results: 1-25 | 26-29
Results: 1-25/29
3 NOVEL MUTATIONS IN THE VON-HIPPEL-LINDAU TUMOR-SUPPRESSOR GENE IN ITALIAN PATIENTS
Authors: MANDICH P MONTERA M BELLONE E TROJANI A DANIELE S AJMAR F
Citation: P. Mandich et al., 3 NOVEL MUTATIONS IN THE VON-HIPPEL-LINDAU TUMOR-SUPPRESSOR GENE IN ITALIAN PATIENTS, Human mutation, 1998, pp. 268-270
PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS (VOL 19, PG 68, 1998)
Authors: MANDICH P JACOPINI G DIMARIA E SABBADINI G ABBRUZZESE G CHIMIRRI F BELLONE E NOVELLETTO A AJMAR F FRONTALI M
Citation: P. Mandich et al., PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS (VOL 19, PG 68, 1998), Italian journal of neurological sciences, 19(3), 1998, pp. 149-149
PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS
Authors: MANDICH P JACOPINI G DIMARIA E SABBADINI G CHIMIRRI F BELLONE E NOVELLETTO A AJMAR F FRONTALI M
Citation: P. Mandich et al., PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS, Italian journal of neurological sciences, 19(2), 1998, pp. 68-74
A MODEL TO PREDICT THE ONSET AGE IN UNAFFECTED HUNTINGTONS-DISEASE MUTATION CARRIERS
Authors: SQUITIERI F GELLERA C RUGGIERI S CASTELLOTTI B FRONTALI M MANDICH P NACMIAS B DELSENNO L RAGONA G DIDONATO P AJMAR F FRATI L NOVELLETTO A
Citation: F. Squitieri et al., A MODEL TO PREDICT THE ONSET AGE IN UNAFFECTED HUNTINGTONS-DISEASE MUTATION CARRIERS, Annals of neurology, 44(3), 1998, pp. 65-65
NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION
Authors: MALASPINA P CRUCIANI F CIMINELLI BM TERRENATO L SANTOLAMAZZA P ALONSO A BANYKO J BRDICKA R GARCIA O GAUDIANO C GUANTI G KIDD KK LAVINHA J AVILA M MANDICH P MORAL P QAMAR R MEHDI SQ RAGUSA A SEFANESCU G CARAGHIN M TYLERSMITH C SCOZZARI R NOVELLETTO A
Citation: P. Malaspina et al., NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION, American journal of human genetics, 63(3), 1998, pp. 847-860
CORRELATION BETWEEN PMP-22 MESSENGER-RNA EXPRESSION AND PHENOTYPE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: SCHENONE A NOBBIO L CAPONNETTO C ABBRUZZESE M MANDICH P BELLONE E AJMAR F GHERARDI G WINDEBANK AJ MANCARDI G
Citation: A. Schenone et al., CORRELATION BETWEEN PMP-22 MESSENGER-RNA EXPRESSION AND PHENOTYPE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Annals of neurology, 42(6), 1997, pp. 866-872
COMMENTS ON DAVAR ET-AL, PAIN, 67 (1996) 135-139
Authors: MANDICH P BELLONE E MONTERA M AJMAR F SCHENONE A NOBBIO L MANCARDI G PIZZUTI A RATTI A WINDEBANK AJ
Citation: P. Mandich et al., COMMENTS ON DAVAR ET-AL, PAIN, 67 (1996) 135-139, Pain, 72(1-2), 1997, pp. 287-287
MESSENGER-RNA DISTRIBUTION IN ADULT HUMAN BRAIN OF GRIN2B, A N-METHYL-D-ASPARTATE (NMDA) RECEPTOR SUBUNIT
Authors: SCHITO AM PIZZUTI A DIMARIA E SCHENONE A RATTI A DEFFERRARI R BELLONE E MANCARDI GL AJMAR F MANDICH P
Citation: Am. Schito et al., MESSENGER-RNA DISTRIBUTION IN ADULT HUMAN BRAIN OF GRIN2B, A N-METHYL-D-ASPARTATE (NMDA) RECEPTOR SUBUNIT, Neuroscience letters, 239(1), 1997, pp. 49-53
INTRACORTICAL INHIBITION AND FACILITATION ARE ABNORMAL IN HUNTINGTONS-DISEASE - A PAIRED MAGNETIC STIMULATION STUDY
Authors: ABBRUZZESE G BUCCOLIERI A MARCHESE R TROMPETTO C MANDICH P SCHIEPPATI M
Citation: G. Abbruzzese et al., INTRACORTICAL INHIBITION AND FACILITATION ARE ABNORMAL IN HUNTINGTONS-DISEASE - A PAIRED MAGNETIC STIMULATION STUDY, Neuroscience letters, 228(2), 1997, pp. 87-90
UNDEREXPRESSION OF MESSENGER-RNA FOR PERIPHERAL MYELIN PROTEIN-22 IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: SCHENONE A NOBBIO L MANDICH P BELLONE E ABBRUZZESE M AYMAR F MANCARDI GL WINDEBANK AJ
Citation: A. Schenone et al., UNDEREXPRESSION OF MESSENGER-RNA FOR PERIPHERAL MYELIN PROTEIN-22 IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Neurology, 48(2), 1997, pp. 445-449
IDENTIFICATION OF A NOVEL NONCODING NUCLEAR-RNA FROM THE DIGEORGE-SYNDROME CRITICAL REGION AT 22Q11
Authors: NOVELLI G PIZZUTI A AMATI F RATTI A MARI A FOGH I CONTI E BENGALA M BORDONI R BELLONE E MANDICH P COLOSIMO A PANDOLFI F DALLAPICCOLA B
Citation: G. Novelli et al., IDENTIFICATION OF A NOVEL NONCODING NUCLEAR-RNA FROM THE DIGEORGE-SYNDROME CRITICAL REGION AT 22Q11, American journal of human genetics, 61(4), 1997, pp. 2232-2232
VON-HIPPEL-LINDAU DISEASE IN TWINS - CLINICAL AND MOLECULAR STUDY
Authors: DANIELE S PELLICCIOLI GP DANIELE C MANDICH P MONTERA M SIMONCELLI C BIANCHI M CAVALIERE A
Citation: S. Daniele et al., VON-HIPPEL-LINDAU DISEASE IN TWINS - CLINICAL AND MOLECULAR STUDY, European journal of neurology, 3(6), 1996, pp. 581-587
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
USE OF COSH1 PROBE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A RELIABLE GENETIC TEST FOR DEMONSTRATION OF IDENTICAL SIZE OF 17P11.2 DELETION IN UNRELATED PATIENTS
Authors: BELLONE E SCHENONE A MANCARDI G NICHOLSON GA ABBRUZZESE M AJMAR F MANDICH P
Citation: E. Bellone et al., USE OF COSH1 PROBE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A RELIABLE GENETIC TEST FOR DEMONSTRATION OF IDENTICAL SIZE OF 17P11.2 DELETION IN UNRELATED PATIENTS, Neuroscience letters, 213(1), 1996, pp. 71-73
PERIPHERAL MYELIN PROTEIN-22 IS UNDEREXPRESSED IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: SCHENONE AE NOBBIO L GROSS L MANDICH P BELLONE E ABBRUZZESE M MANCARDI GL WINDEBANK AJ
Citation: Ae. Schenone et al., PERIPHERAL MYELIN PROTEIN-22 IS UNDEREXPRESSED IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Neurology, 46(2), 1996, pp. 35005-35005
MOLECULAR ANALYSIS OF THE IT15 GENE IN PATIENTS WITH APPARENTLY SPORADIC HUNTINGTONS-DISEASE
Authors: MANDICH P DIMARIA E BELLONE E AJMAR F ABBRUZZESE G
Citation: P. Mandich et al., MOLECULAR ANALYSIS OF THE IT15 GENE IN PATIENTS WITH APPARENTLY SPORADIC HUNTINGTONS-DISEASE, European neurology, 36(6), 1996, pp. 348-352
DE-NOVO DUPLICATION IN CHARCOT-MARIE-TOOTH TYPE 1A
Authors: MANDICH P BELLONE E SCHENONE A MANCARDI G ABBRUZZESE M AJMAR F
Citation: P. Mandich et al., DE-NOVO DUPLICATION IN CHARCOT-MARIE-TOOTH TYPE 1A, American journal of human genetics, 59(3), 1996, pp. 739-740
MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) BY DETECTION OF 17P11.2 DELETION IN ITALIAN PATIENTS
Authors: MANDICH P JAMES R NASSANI S DEFFERRARI R BELLONE E MANCARDI G SCHENONE A ABBRUZZESE M ROCCHI M AJMAR F ARCHIDIACONO N
Citation: P. Mandich et al., MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) BY DETECTION OF 17P11.2 DELETION IN ITALIAN PATIENTS, Journal of neurology, 242(5), 1995, pp. 295-298
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
PROGRESSIVE SENSORY-MOTOR POLYNEUROPATHY WITH TOMACULOUS CHANGES IS ASSOCIATED TO 17P11.2 DELETION
Authors: MANCARDI GL MANDICH P NASSANI S SCHENONE A JAMES R DEFFERRARI R BELLONE E GIUNCHEDI M AJMAR F ABBRUZZESE M
Citation: Gl. Mancardi et al., PROGRESSIVE SENSORY-MOTOR POLYNEUROPATHY WITH TOMACULOUS CHANGES IS ASSOCIATED TO 17P11.2 DELETION, Journal of the neurological sciences, 131(1), 1995, pp. 30-34
EXPRESSION OF PMP-22 IN SURAL NERVES OF PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)
Authors: SCHENONE A NOBBIO L WINDEBANK AJ MANDICH P BELLONE E ABBRUZZESE M MANCARDI GL
Citation: A. Schenone et al., EXPRESSION OF PMP-22 IN SURAL NERVES OF PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP), American journal of human genetics, 57(4), 1995, pp. 1976-1976
POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE
Authors: NOVELLETTO A PERSICHETTI F SABBADINI G MANDICH P BELLONE E AJMAR F SQUITIERI F CAMPANELLA G BOZZA A MACDONALD ME GUSELLA JF FRONTALI M
Citation: A. Novelletto et al., POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE, Human molecular genetics, 3(7), 1994, pp. 1129-1132
ANALYSIS OF THE TRINUCLEOTIDE REPEAT EXPANSION IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE
Authors: NOVELLETTO A PERSICHETTI F SABBADINI G MANDICH P BELLONE E AJMAR F PERGOLA M DELSENNO L MACDONALD ME GUSELLA JF FRONTALI M
Citation: A. Novelletto et al., ANALYSIS OF THE TRINUCLEOTIDE REPEAT EXPANSION IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE, Human molecular genetics, 3(1), 1994, pp. 93-98
MAPPING OF THE HUMAN NMDAR2B RECEPTOR SUBUNIT GENE (GRIN2B) TO CHROMOSOME 12P12
Authors: MANDICH P SCHITO AM BELLONE E ANTONACCI R FINELLI P ROCCHI M AJMAR F
Citation: P. Mandich et al., MAPPING OF THE HUMAN NMDAR2B RECEPTOR SUBUNIT GENE (GRIN2B) TO CHROMOSOME 12P12, Genomics, 22(1), 1994, pp. 216-218
HOMOZYGOUS HYPERTROPHIC HEREDITARY MOTOR AND SENSORY NEUROPATHIES
Authors: SGHIRLANZONI A PAREYSON D MARAZZI R CAVALETTI G BELLONE E MANDICH P BALESTRINI MR RIVA D
Citation: A. Sghirlanzoni et al., HOMOZYGOUS HYPERTROPHIC HEREDITARY MOTOR AND SENSORY NEUROPATHIES, Italian journal of neurological sciences, 15(1), 1994, pp. 5-14
Risultati: 1-25 | 26-29