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F Trettel

Research Profile

Anatomy

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Devices

Yeast Artificial Chromosomes

Chemicals & Drugs

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Amino Acid Sequences

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Cricetinae

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Publications

TOP 3
serena guida; F Trettel; STEFANO PAGNUTTI; Elide Mantuano; Angelita Tottene; Liana Veneziano; Tommaso Fellin; Maria Spadaro; Kenneth A Stauderman; M Williams; S Volsen; R Ophoff; Rune R Frants; C Jodice; Marina Frontali; Daniela Pietrobon
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
F Trettel; Elide Mantuano; V Calabresi; Liana Veneziano; A S Olsen; A Georgescu; L Gordon; G Sabbadini; Marina Frontali; C Jodice
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome.
KL Chambliss; DD Hinson; F Trettel; Patrizia Malaspina; Andrea Novelletto; Cornelis Jakobs; K Michael Gibson
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

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All Publications

2001: serena guida; F Trettel; STEFANO PAGNUTTI; Elide Mantuano; Angelita Tottene; Liana Veneziano; Tommaso Fellin; Maria Spadaro; Kenneth A Stauderman; M Williams; S Volsen; R Ophoff; Rune R Frants; C Jodice; Marina Frontali; Daniela Pietrobon
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
American journal of human genetics 2001;68(3):759-64.
2000: F Trettel; Elide Mantuano; V Calabresi; Liana Veneziano; A S Olsen; A Georgescu; L Gordon; G Sabbadini; Marina Frontali; C Jodice
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome.
Gene 2000;241(1):45-50.
1998: KL Chambliss; DD Hinson; F Trettel; Patrizia Malaspina; Andrea Novelletto; Cornelis Jakobs; K Michael Gibson
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
American journal of human genetics 1998;63(2):399-408.
1998: Elide Mantuano; F Trettel; A S Olsen; G Lennon; Marina Frontali; C Jodice
Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1.
Gene 1998;215(1):153-7.
1997: C Jodice; Elide Mantuano; Liana Veneziano; F Trettel; G Sabbadini; L Calandriello; Ada Francia; Maria Spadaro; Francesco Pierelli; Fabrizio Salvi; R A Ophoff; Rune R Frants; Marina Frontali
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
Human molecular genetics 1997;6(11):1973-8.
1997: L Calandriello; Liana Veneziano; Ada Francia; G Sabbadini; C Colonnese; Elide Mantuano; C Jodice; F Trettel; P Viviani; Mario Manfredi; Marina Frontali
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.
Brain : a journal of neurology 1997;120 ( Pt 5)():805-12.
1997: F Trettel; Patrizia Malaspina; C Jodice; Andrea Novelletto; C A Slaughter; D L Caudle; DD Hinson; KL Chambliss; K Michael Gibson
Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization.
Advances in experimental medicine and biology 1997;414():253-60.
1996: Patrizia Malaspina; Antonella Roetto; F Trettel; C Jodice; P Blasi; Marina Frontali; Massimo Carella; B Franco; Clara Camaschella; Andrea Novelletto
Construction of a YAC contig covering human chromosome 6p22.
Genomics 1996;36(3):399-407.
1996: F Trettel; Patrizia Malaspina; P Blasi; C Jodice; Andrea Novelletto; G Sabbadini; Liana Veneziano; Marina Frontali; L Terrenato
Ordering of 44 genetic markers in the 6p22 cytogenetic band.
DNA sequence : the journal of DNA sequencing and mapping 1996;7(1):51-2.