Search Results - (Author, Cooperation:F. Macciardi)
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1S. Sawcer ; G. Hellenthal ; M. Pirinen ; C. C. Spencer ; N. A. Patsopoulos ; L. Moutsianas ; A. Dilthey ; Z. Su ; C. Freeman ; S. E. Hunt ; S. Edkins ; E. Gray ; D. R. Booth ; S. C. Potter ; A. Goris ; G. Band ; A. B. Oturai ; A. Strange ; J. Saarela ; C. Bellenguez ; B. Fontaine ; M. Gillman ; B. Hemmer ; R. Gwilliam ; F. Zipp ; A. Jayakumar ; R. Martin ; S. Leslie ; S. Hawkins ; E. Giannoulatou ; S. D'Alfonso ; H. Blackburn ; F. Martinelli Boneschi ; J. Liddle ; H. F. Harbo ; M. L. Perez ; A. Spurkland ; M. J. Waller ; M. P. Mycko ; M. Ricketts ; M. Comabella ; N. Hammond ; I. Kockum ; O. T. McCann ; M. Ban ; P. Whittaker ; A. Kemppinen ; P. Weston ; C. Hawkins ; S. Widaa ; J. Zajicek ; S. Dronov ; N. Robertson ; S. J. Bumpstead ; L. F. Barcellos ; R. Ravindrarajah ; R. Abraham ; L. Alfredsson ; K. Ardlie ; C. Aubin ; A. Baker ; K. Baker ; S. E. Baranzini ; L. Bergamaschi ; R. Bergamaschi ; A. Bernstein ; A. Berthele ; M. Boggild ; J. P. Bradfield ; D. Brassat ; S. A. Broadley ; D. Buck ; H. Butzkueven ; R. Capra ; W. M. Carroll ; P. Cavalla ; E. G. Celius ; S. Cepok ; R. Chiavacci ; F. Clerget-Darpoux ; K. Clysters ; G. Comi ; M. Cossburn ; I. Cournu-Rebeix ; M. B. Cox ; W. Cozen ; B. A. Cree ; A. H. Cross ; D. Cusi ; M. J. Daly ; E. Davis ; P. I. de Bakker ; M. Debouverie ; B. D'Hooghe M ; K. Dixon ; R. Dobosi ; B. Dubois ; D. Ellinghaus ; I. Elovaara ; F. Esposito ; C. Fontenille ; S. Foote ; A. Franke ; D. Galimberti ; A. Ghezzi ; J. Glessner ; R. Gomez ; O. Gout ; C. Graham ; S. F. Grant ; F. R. Guerini ; H. Hakonarson ; P. Hall ; A. Hamsten ; H. P. Hartung ; R. N. Heard ; S. Heath ; J. Hobart ; M. Hoshi ; C. Infante-Duarte ; G. Ingram ; W. Ingram ; T. Islam ; M. Jagodic ; M. Kabesch ; A. G. Kermode ; T. J. Kilpatrick ; C. Kim ; N. Klopp ; K. Koivisto ; M. Larsson ; M. Lathrop ; J. S. Lechner-Scott ; M. A. Leone ; V. Leppa ; U. Liljedahl ; I. L. Bomfim ; R. R. Lincoln ; J. Link ; J. Liu ; A. R. Lorentzen ; S. Lupoli ; F. Macciardi ; T. Mack ; M. Marriott ; V. Martinelli ; D. Mason ; J. L. McCauley ; F. Mentch ; I. L. Mero ; T. Mihalova ; X. Montalban ; J. Mottershead ; K. M. Myhr ; P. Naldi ; W. Ollier ; A. Page ; A. Palotie ; J. Pelletier ; L. Piccio ; T. Pickersgill ; F. Piehl ; S. Pobywajlo ; H. L. Quach ; P. P. Ramsay ; M. Reunanen ; R. Reynolds ; J. D. Rioux ; M. Rodegher ; S. Roesner ; J. P. Rubio ; I. M. Ruckert ; M. Salvetti ; E. Salvi ; A. Santaniello ; C. A. Schaefer ; S. Schreiber ; C. Schulze ; R. J. Scott ; F. Sellebjerg ; K. W. Selmaj ; D. Sexton ; L. Shen ; B. Simms-Acuna ; S. Skidmore ; P. M. Sleiman ; C. Smestad ; P. S. Sorensen ; H. B. Sondergaard ; J. Stankovich ; R. C. Strange ; A. M. Sulonen ; E. Sundqvist ; A. C. Syvanen ; F. Taddeo ; B. Taylor ; J. M. Blackwell ; P. Tienari ; E. Bramon ; A. Tourbah ; M. A. Brown ; E. Tronczynska ; J. P. Casas ; N. Tubridy ; A. Corvin ; J. Vickery ; J. Jankowski ; P. Villoslada ; H. S. Markus ; K. Wang ; C. G. Mathew ; J. Wason ; C. N. Palmer ; H. E. Wichmann ; R. Plomin ; E. Willoughby ; A. Rautanen ; J. Winkelmann ; M. Wittig ; R. C. Trembath ; J. Yaouanq ; A. C. Viswanathan ; H. Zhang ; N. W. Wood ; R. Zuvich ; P. Deloukas ; C. Langford ; A. Duncanson ; J. R. Oksenberg ; M. A. Pericak-Vance ; J. L. Haines ; T. Olsson ; J. Hillert ; A. J. Ivinson ; P. L. De Jager ; L. Peltonen ; G. J. Stewart ; D. A. Hafler ; S. L. Hauser ; G. McVean ; P. Donnelly ; A. Compston
Nature Publishing Group (NPG)
Published 2011Staff ViewPublication Date: 2011-08-13Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Alleles ; Cell Differentiation/immunology ; Europe/ethnology ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; Genome-Wide Association Study ; HLA-A Antigens/genetics ; HLA-DR Antigens/genetics ; HLA-DRB1 Chains ; Humans ; Immunity, Cellular/genetics/*immunology ; Major Histocompatibility Complex/genetics ; Multiple Sclerosis/*genetics/*immunology ; Polymorphism, Single Nucleotide/genetics ; Sample Size ; T-Lymphocytes, Helper-Inducer/cytology/immunologyPublished by: -
2Staff View
Publication Date: 2018-06-22Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyGeosciencesComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Genetics, Medicine, Diseases, Online OnlyPublished by: -
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ISSN: 0165-0327Keywords: Affective spectrum disorder ; Lithium outcome ; Onset class ; Segregation analysisSource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicinePsychologyType of Medium: Electronic ResourceURL: -
4St George-Hyslop, P. ; Haines, J. ; Rogaev, E. ; Mortilla, M. ; Vaula, G. ; Pericak-Vance, M. ; Foncin, J-F ; Montesi, M. ; Bruni, A. ; Sorbi, S. ; Rainero, I. ; Pinessi, L. ; Pollen, D. ; Polinsky, R. ; Nee, L. ; Kennedy, J. ; Macciardi, F. ; Rogaeva, E. ; Liang, Y. ; Alexandrova, N. ; Lukiw, W. ; Schlumpf, K. ; Tanzi, R. ; Tsuda, T. ; Farrer, L.
[s.l.] : Nature Publishing Group
Published 1992Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset pedigrees showing associations with markers on ...Type of Medium: Electronic ResourceURL: -
5Moises, H.W. ; Yang, L. ; Kristbjarnarson, H. ; Wiese, C. ; Byerley, W. ; Macciardi, F. ; Arolt, V. ; Blackwood, D. ; Liu, X. ; Sjögren, B. ; Aschauer, H.N. ; Hwu, H.-G. ; Jang, K. ; Livesley, W.J. ; Kennedy, J.L. ; Zoega, T. ; Ivarsson, O. ; Bui, M.-T. ; Yu, M.-H. ; Havsteen, B. ; Commenges, D. ; Weissenbach, J. ; Schwinger, E. ; Gottesman, I.I. ; Pakstis, A.J.
[s.l.] : Nature Publishing Group
Published 1995Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] In stage I, the human genome was searched systematically using Généthon's linkage map6 and large families from a geographic isolate, to reduce the level of aetiological heterogeneity. To increase the power of the study, we employed a new and powerful non-parametric linkage test ...Type of Medium: Electronic ResourceURL: -
6Hillmer, A.M. ; Kruse, R. ; Macciardi, F. ; Heyn, U. ; Betz, R.C. ; Ruzicka, T. ; Propping, P. ; Nöthen, M.M. ; Cichon, S.
Oxford, UK : Blackwell Science Ltd
Published 2002Staff ViewISSN: 1365-2133Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: Summary Background Genetic disposition and androgen dependence are important characteristics of the common patterned loss of scalp hair known as androgenetic alopecia (AGA). The genetic factors contributing to AGA are currently unknown. The human hairless gene (HR) has recently been cloned and mutations have been reported in families with autosomal recessive universal congenital alopecia and papular atrichia. The main feature of these disorders is persistent complete absence of hair at or shortly after birth. This suggests that HR is essential and specific for the development of hair. Objectives To test the hypothesis that HR may be involved in AGA. Methods We systematically screened HR for genetic variability by means of single-strand conformation analysis (SSCA) in 46 unrelated men with AGA. To test for an involvement of HR in the development of AGA, seven common variants were genotyped in 61 families with 93 affected offspring. The results were analysed with the transmission/disequilibrium test (TDT). Results SSCA showed 15 single nucleotide substitutions: eight missense mutations, four silent mutations and three mutations in exon-flanking intronic sequences. TDT results showed a marginally significant association between AGA and variants 3379–29G/T (P = 0·024) and 2611–68C/T (P = 0·047). These results, however, did not remain significant after applying the conservative Bonferroni correction for multiple testing. Conclusions Our results do not provide evidence for a strong involvement of HR in the development of AGA, although a minor role cannot be fully excluded.Type of Medium: Electronic ResourceURL: -
7Smeraldi, E. ; Petroccione, A. ; Gasperini, M. ; Macciardi, F. ; Orsini, A. ; Kidd, K.K.
Amsterdam : ElsevierStaff ViewISSN: 0165-0327Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicinePsychologyType of Medium: Electronic ResourceURL: -
8Staff View
ISSN: 0165-0327Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicinePsychologyType of Medium: Electronic ResourceURL: -
9Petronis, A. ; Bassett, A.S. ; Sidenberg, D.G. ; Kamble, A.B. ; Honer, W.G. ; Macciardi, F. ; Kennedy, J.L.
Amsterdam : ElsevierStaff ViewISSN: 0920-9964Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
10Kennedy, J.L. ; Van Tol, H.H.M. ; Petronis, A. ; Sidenberg, D.G. ; Macciardi, F. ; Honer, W.G. ; Bassett, A.S.
Amsterdam : ElsevierStaff ViewISSN: 0920-9964Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
11Staff View
ISSN: 0022-3956Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
12Staff View
ISSN: 0920-9964Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
13Macciardi, F. ; Cavallini, M.C. ; Marino, C. ; Verga, M. ; Cauli, G. ; Kennedy, J.L. ; Smeraldi, E. ; Morabito, A.
Amsterdam : ElsevierStaff ViewISSN: 0920-9964Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
14Colombo, C. ; Gambini, O. ; Macciardi, F. ; Bellodi, L. ; Sacchetti, E. ; Vita, A. ; Cattaneo, R. ; Scarone, S.
Amsterdam : ElsevierStaff ViewISSN: 0167-8760Keywords: Alpha reactivity ; Cognitive task ; Hemisphere ; SchizophreniaSource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicinePsychologyType of Medium: Electronic ResourceURL: -
15Smeraldi, E. ; Gambini, O. ; Bellodi, L. ; Sacchetti, E. ; Vita, A. ; di Rosa, M. ; Macciardi, F. ; Cazzullo, C.L.
Amsterdam : ElsevierStaff ViewISSN: 0165-1781Keywords: Schizophrenic disorders ; smooth pursuit eye movements ; ventricle-brain ratioSource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
16Macciardi, F. ; Lucca, A. ; Catalano, M. ; Marino, C. ; Zanardi, R. ; Smeraldi, E.
Amsterdam : ElsevierStaff ViewISSN: 0165-1781Keywords: N-methyl-D- aspartate receptors ; Schizophrenia ; amino acids ; glutamate ; glycineSource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
17Staff View
ISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary The hypothesis is examined that heteroxygosity for amino acid disorders (AAD) is a genetic component of susceptibility for schizophrenic psychoses. To detect possible heterozygotes, urinary and blood amino acid levels were analyzed in a sample of subjects with a diagnosis of schizophrenia and in their biological parents and compared with those of a sample of healthy volunteers. The results showed increased blood and urinary levels of certain amino acid in those patients who have at least one parent with the same amino acid abnormality. This finding points to the possibility of heterozygosity for AAD in schizophrenic patients.Type of Medium: Electronic ResourceURL: -
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ISSN: 1435-1463Keywords: NMDA receptor ; glycine ; cycloserine ; schizophrenia ; PCP-psychosisSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Summary D-cycloserine, a partial agonist at the strichnine-insensitive glycine site of the NMDA receptor complex, was tested as adjuvant treatment to conventional neuroleptics in chronic schizophrenic volunteers. The drug was administered, o.a.d., at the daily dose of 250 mg for six weeks. Mental status outcome measures were completed at the end of each week of treatment. The major finding was a deteriora of the patients' clinical condition, specifically of their psychotic symptoms. These preliminary results are discussed among others in view of d-cycloserine pharmacologic properties and recent findings on the interaction between NMDA agonists and dopamine system. This study, finally, suggests the need for a controlled dose-finding trial to establish the activity and a therapeutic “window” of this drug in schizophrenia.Type of Medium: Electronic ResourceURL: -
19Bruni, A. C. ; Montesi, M. P. ; Rainero, I. ; Ferini-Strambi, L. ; Macciardi, F. ; Pinessi, L. ; Gei, G. ; Fragiacomo, D. ; Bergamini, L.
Springer
Published 1993Staff ViewISSN: 1590-3478Keywords: Familial Alzheimer disease ; genealogical method ; founder effectSource: Springer Online Journal Archives 1860-2000Topics: MedicineDescription / Table of Contents: Sommario Diversi ceppi (famiglie N, C, To, RB) con Malattia di Alzheimer Familiare (FAD), provenienti dalla stessa ristretta area della Calabria, sono attualmente in corso di studio. Recentemente, due degli autori (F.M. e L.F-S.), hanno identificato a Milano una famiglia (FJ01) composta da tre fratelli affetti i cui genitori avevano origini calabresi. La successiva applicazione di un metodo di studio genealogico “a tappeto” ha permesso il ritrovamento di un legame tra la famiglia To e la FJ01. Si discute l'importanza di questi risultati per gli studi genetici.Notes: Abstract Several kindreds (N,C, To and RB) with familial Alzheimer disease (FAD) from the same small area of Calabria are currently under study. Recently two of us (F.M. and L.F-S.) identified a family in Milan (FJ01) made up of 3 siblings whose parents were of Calabrian origin. Through a subsequent systematic or blanket genealogical study a link has been traced between kindreds To and FJ01. We discuss the relevance of these results to genetic studies.Type of Medium: Electronic ResourceURL: -
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ISSN: 1590-3478Keywords: Migraine without aura ; genetic hypothesis ; family history ; “sex-limited” transmissionSource: Springer Online Journal Archives 1860-2000Topics: MedicineDescription / Table of Contents: Sommario Allo scopo di comprovare la teoria genetica dell'emicrania, abbiamo studiato 68 pazienti consecutivi affetti da emicrania senz'aura insieme ai loro parenti attraverso quattro generazioni (N=394). Significativamente la maggior parte dei probandi erano donne e l'emicrania era più frequente tra i parenti di sesso femminile. Un'età di esordio più bassa era più comune tra i probandi di sesso maschile. L'esistenza di una componente genetica dell'emicrania senz'aura è indicata dall' alta incidenza di storia familiare positiva (almeno un parente affetto) uguale all'85.3% e da una costante prevalenza di malattia nei parenti di primo e secondo grado. Dall'analisi dei dati riguardanti le percentuali di probandi con genitori affetti da emicrania, sembra improbabile l'esistenza di una trasmissione di tipo autosomico. Viene proposta una trasmissione “sex-limited”.Notes: Abstract 68 randomly selected patients with migraine without aura (M) and 4 generations of their relatives (N=394) were studied in order to probe the genetic hypothesis of migraine. Significantly more of the probands were women and M was significantly more frequent among female relatives. Earlier onset was commoner among male probands. A genetic component of M is indicated by the very high frequency of at least one affected relative (85.3%) and by a disease prevalence that is similar among both first and second degree relatives. A simple autosomal mode of transmission seems unlikely from analysis of the data on the affected relatives, while a “sex-limited” transmission mode is suggested.Type of Medium: Electronic ResourceURL: