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内部出版物
SpringerLink电子期刊(8)
Elsevier电子期刊(11)
在“
Elsevier电子期刊
”中,
命中:
11
条,耗时:小于0.01 秒
在所有数据库中总计命中:
19
条
1.
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial
作者:
Silvia Romano
;
MD
a
;
Giulia Coarelli
;
MD
a
;
Christian Marcotulli
;
MD
c
;
Luca Leonardi
;
MD
c
;
Francesca Piccolo
;
MD
c
;
Maria Spadaro
;
MD
d
;
Marina
Frontali
;
MD
d
;
Michela Ferraldeschi
;
MD
a
;
Maria Chiara Vulpiani
;
MD
b
;
Federica Ponzelli
;
BPT
a
;
Dr Marco Salvetti
;
MD
a
;
marco.salvetti@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
;
Francesco Orzi
;
MD
a
;
Antonio Petrucci
;
MD
e
;
Nicola Vanacore
;
MD
f
;
Carlo Casali
;
MD
c
;
Dr Giovanni Ristori
;
MD
a
;
giovanni.ristori@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
刊名:Lancet Neurology
出版年:2015
2.
Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
作者:
Jong-Min Lee
1
;
2
;
Tammy Gillis
1
;
Jayalakshmi
;
Srinidhi Mysore
1
;
Eliana
;
Marisa Ramos
1
;
3
;
Richard
;
H. Myers
4
;
Michael
;
R. Hayden
5
;
Patrick
;
J. Morrison
6
;
7
;
Martha Nance
8
;
Christopher
;
A. Ross
9
;
Russell
;
L. Margolis
9
;
Ferdinando Squitieri
10
;
Annamaria Griguoli
10
;
Stefano Di
;
Donato
11
;
Estrella Gomez-Tortosa
12
;
Carmen Ayuso
13
;
Oksana Suchowersky
14
;
Ronald
;
J. Trent
15
;
Elizabeth McCusker
16
;
Andrea Novelletto
17
;
Marina
Frontali
18
;
Randi Jones
19
;
Tetsuo Ashizawa
20
;
Samuel Frank
4
;
Marie-Helene Saint-Hilaire
4
;
Steven
;
M. Hersch
21
;
Herminia
;
D. Rosas
21
;
Diane Lucente
1
;
Madaline
;
B. Harrison
22
;
Andrea Zanko
23
;
Ruth
;
K. Abramson
24
;
Karen Marder
25
;
Jorge Sequeiros
3
;
26
;
Marcy
;
E. MacDonald
1
;
2
;
James
;
F. Gusella
1
;
2
;
gusella@helix.mgh.harvard.edu
刊名:The American Journal of Human Genetics
出版年:2012
3.
Metazoan parasites of cetaceans off the northeastern coast of Brazil
作者:
Vitor Luz Carvalho
;
Claudia Maria Leal Bevilaqua
;
Alena Mayo Iñ
;
iguez
;
Helena Mathews-Cascon
;
Felipe Bezerra Ribeiro
;
Lourdes
Marina
Bezerra Pessoa
;
Ana Carolina Oliveira de Meirelles
;
Joã
;
o C
关键词:
Cetaceans
;
Endoparasites
;
Ectoparasites
;
Commensals
刊名:Veterinary Parasitology
出版年:2010
4.
Newly characterised 5′ and 3′ regions of CACNA1A
作者:
Liana Veneziano
;
Serena Guida
;
Elide Mantuano
;
Paola Bernard
;
Patrizia Tarantino
;
Loredana Boccone
;
Fuki M. Hisama
;
Paola Carrera
;
Carla Jodice
;
Marina
Frontali
关键词:
CACNA1A
human gene promoter
;
CACNA1A
exon 48
;
Familial Hemiplegic Migraine type 1
;
Episodic Ataxia type 2
;
Cav2.1 channels
刊名:Journal of the Neurological Sciences
出版年:2009
5.
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
作者:
Claudia Provenzano
;
Liana Veneziano
;
Richard Appleton
;
Marina
Frontali
;
Donato Civitareale
关键词:
TTF-1
;
NKX2.1
;
Benign hereditary chorea
;
BHC
;
Haploinsufficiency
刊名:Journal of the Neurological Sciences
出版年:2008
6.
A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study
作者:
Jian-Liang Li
;
Michael R. Hayden
;
Elisabeth W. Almqvist
;
Ryan R. Brinkman
;
Alex
;
ra Durr
;
Catherine Dodé
;
Patrick J. Morrison
;
Oksana Suchowersky
;
Christopher A. Ross
;
Russell L. Margolis
;
Adam Rosenblatt
;
Estrella Gó
;
mez-Tortosa
;
David Mayo Cabrero
;
Andrea Novelletto
;
Marina
Frontali
;
Marth
刊名:The American Journal of Human Genetics
出版年:2003
7.
Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?
作者:
Frontali
;
Marina
关键词:
Episodic ataxia type 2
;
Familial hemiplegic migraine
;
α
;
1A
subunit
;
calcium channel type P/Q
;
CACNA1A gene
刊名:Brain Research Bulletin
出版年:2001
8.
Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6,
作者:
Enza Maria Valente
;
Anna Rita Bentivoglio
;
Peter H. Dixon
;
Aless
;
ro Ferraris
;
Tamara Ialongo
;
Marina
Frontali
;
Alberto Albanese
;
Nicholas W. Wood
刊名:The American Journal of Human Genetics
出版年:2001
9.
Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2
作者:
Serena Guida
;
Flavia Trettel
;
Stefano Pagnutti
;
Elide Mantuano
;
Angelita Tottene
;
Liana Veneziano
;
Tommaso Fellin
;
Maria Spadaro
;
Kenneth A. Stauderman
;
Mark E. Williams
;
Stephen Volsen
;
Roel A. Ophoff
;
Rune R. Frants
;
Carla Jodice
;
Marina
Frontali
;
Daniela Pietrobon
刊名:The American Journal of Human Genetics
出版年:2001
10.
Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1
作者:
Mantuano
;
Elide
;
Trettel
;
Flavia
;
Olsen
;
Anne S.
;
Lennon
;
Greg
;
Frontali
;
Marina
;
Jodice
;
Carla
关键词:
Hypusine biosynthesis
;
DHPS gene isoforms
;
Cell proliferation
;
aa
;
amino acid(s)
;
Asp
;
aspartic acid
;
BAC
;
bacterial artificial chromosome
;
bp
;
base pair(s)
;
cDNA
;
DNA complementary to RNA
;
DHPS
;
deoxyhypusine synthase
;
DHPS
;
gene encoding DHPS
;
eIF-5A
;
e
刊名:Gene
出版年:1998
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