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内部出版物
CNKI学位论文(22)
知网期刊论文(35)
在“
Elsevier电子期刊
”中,
命中:
32
条,耗时:小于0.01 秒
在所有数据库中总计命中:
57
条
1.
P
93 - 2953: Identification of a new mutation of the SCL1A gene in a
p
atient with GLUT1-DS
作者:
T. Foiadelli
;
M.V. S
p
artà
;
N. Zavras
;
C.
P
assera
;
C. Gagliardone
;
B. Rinaldi
;
S. Vala
p
erta
;
F. Madia
;
P
.
Veggiotti
;
P
. Striano
;
S. Savasta
刊名:Euro
p
ean Journal of Paediatric Neurology
出版年:2015
2.
Vaccination and Occurrence of Seizures in SCN1A Mutation-
P
ositive Patients: A Multicenter Italian Study
作者:
Nelia Zam
p
oni
;
Claudia
P
assamonti
;
Cristina
P
etrelli
;
P
ierangelo
Veggiotti
;
Chiara Baldassari
;
Alberto Verrotti
;
Giovanni Ca
p
ovilla
;
Maurizio Viri
;
Giangennaro Co
pp
ola
;
Aglaia Vignoli
关键词:
vaccination
;
Dravet syndrome
;
GEFS+
;
SCN1A gene
;
seizure
;
cognition
刊名:
P
ediatric Neurology
出版年:March, 2014
3.
Long-term effects of a ketogenic diet on body com
p
osition and bone mineralization in GLUT-1 deficiency syndrome: A case series
作者:
Simona Bertoli
;
M.D.
p>a
p>
;
Claudia Trentani
;
R.D.
p>b
p>
;
Cinzia Ferraris
;
R.D.
p>b
p>
;
Valentina De Giorgis
;
M.D.
p>c
p>
;
P
ierangelo
Veggiotti
;
M.D.
p>c
p>
;
Anna Tagliabue
;
M.D.
p>b
p>
p>
;
p>
p>Anna.tagliabue@uni
p
v.it" class="auth_mail
p>
关键词:
Glucose trans
p
orter 1 deficiency syndrome
;
Ketogenic diet
;
Bone health
;
Body com
p
osition
刊名:Nutrition
出版年:June 2014
4.
Dravet
p
henoty
p
e in a subject with a der(4)t(4;8)(
p
16.3;
p
23.3) without the involvement of the LETM1 gene
作者:
Baran Bayindir
;
Elena
P
iazza
;
Erika Della Mina
;
Ivan Limongelli
;
Francesca Brustia
;
Roberto Ciccone
;
P
ierangelo
Veggiotti
;
Orsetta Zuffardi
;
Mohammed Reza Dehghani
关键词:
Dravet syndrome
;
der(4)t(4
;
8)(
p
16.3
;
p
23.3)
;
WHS
刊名:Euro
p
ean Journal of Medical Genetics
出版年:2013
5.
GLUT1 deficiency syndrome 2013: Current state of the art
作者:
Valentina De Giorgis
;
P
ierangelo
Veggiotti
关键词:
GLUT1DS
;
E
p
ile
p
sy
;
Movement disorder
;
Lumbar
p
uncture
;
SLC2A1 gene
;
Ketogenic diet
刊名:Seizure
出版年:December, 2013
6.
Functional and structural disru
p
tion of the
p
recuneus contributes to cognitive im
p
airment in
p
ediatric multi
p
le sclerosis
作者:
P
. Preziosa
;
M.A. Rocca
;
M. Absinta
;
M.
P
. Amato
;
A. Ghezzi
;
L. Moiola
;
A. Fiorino
;
P
.
Veggiotti
;
G. Comi
;
M. Fili
pp
i
刊名:Journal of the Neurological Sciences
出版年:2013
7.
Abnormal visual habituation in
p
ediatric
p
hotosensitive e
p
ile
p
sy
作者:
D. Brazzo
;
G. Di Lorenzo
;
P
. Bill
;
M. Fasce
;
G.
P
a
p
alia
;
P
.
Veggiotti
;
S. Seri
关键词:
P
hotosensitivity
;
E
p
ile
p
sy
;
Habituation
;
Sensory gating
;
P
attern-reversal VEP
刊名:Clinical Neuro
p
hysiology
出版年:2011
8.
Galloway–Mowat syndrome: An early-onset
p
rogressive ence
p
halo
p
athy with intractable e
p
ile
p
sy associated to renal im
p
airment. Two novel cases and review of literature
作者:
Marianna
P
ezzella
;
Nune S. Yeghiazaryan
;
P
ierangelo
Veggiotti
;
Alberto Bettinelli
;
Giovanna Giudizioso
;
Federico Zara
;
P
asquale Striano
;
Carlo Minetti
关键词:
Galloway–
;
Mowat syndrome
;
E
p
ile
p
sy
;
Ne
p
hrotic syndrome
;
Develo
p
mental delay
;
Microce
p
haly
刊名:Seizure
出版年:2010
9.
Dravet syndrome: Early clinical manifestations and cognitive outcome in 37 Italian
p
atients
作者:
Francesca Ragona
;
Daniela Brazzo
;
Ilaria De Giorgi
;
Monica Morbi
;
Elena Freri
;
Federica Teutonico
;
Elena Gennaro
;
Federico Zara
;
Simona Binelli
;
P
ierangelo
Veggiotti
;
Tiziana Granata
关键词:
Dravet syndrome
;
SCN1A
;
E
p
ile
p
tic ence
p
halo
p
athy
;
Diagnosis
;
Mental retardation
刊名:Brain and Develo
p
ment
出版年:2010
10.
Glucose trans
p
orter ty
p
e 1 deficiency: Ketogenic diet in three
p
atients with aty
p
ical
p
henoty
p
e
作者:
P
ierangelo
Veggiotti
;
Federica Teutonico
;
Enrico Alfei
;
Nardo Nardocci
;
Giovanna Zorzi
;
Anna Tagliabue
;
Valentina De Giorgis
;
Umberto Balottin
关键词:
Ketogenic diet
;
GLUT-1
;
GLUT-1 DS
;
P
aroxysmal movement disorder
;
EEG and Seizures
刊名:Brain and Develo
p
ment
出版年:2010
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