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CNKI学位论文(61)
知网期刊论文(12)
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:0.0109929 秒
在所有数据库中总计命中:
73
条
1.
New Insigh
t
s Abou
t
t
he Incidence, Mul
t
isys
t
em Manifes
t
a
t
ions, and Care of Pa
t
ien
t
s wi
t
h Congeni
t
al Myo
t
onic Dys
t
rophy
作者:
James E. Hilber
t
;
MS
;
james_hilber
t
@urmc.roches
t
er.edu
;
Nicholas E. Johnson
;
MD
;
Richard
T
.
Moxley
III
;
MD
关键词:
CDM
;
Congeni
t
al myo
t
onic dys
t
rophy
;
CPSP
;
Canadian Pedia
t
ric Surveillance Program
;
DM1
;
Myo
t
onic dys
t
rophy
t
ype 1
刊名:
T
he Journal of Pedia
t
rics
出版年:2013
2.
If you build a rare disease regis
t
ry, will
t
hey enroll and will
t
hey use i
t
? Me
t
hods and da
t
a from
t
he Na
t
ional Regis
t
ry of Myo
t
onic Dys
t
rophy (DM) and Facioscapulohumeral Muscular Dys
t
rophy (FSHD)
作者:
James E. Hilber
t
a
;
james_hilber
t
@urmc.roches
t
er.edu
;
John
T
. Kissel
b
;
Elizabe
t
h A. Luebbe
a
;
William B. Mar
t
ens
a
;
Michael P. McDermo
tt
a
;
c
;
Donald B. Sanders
d
;
Rabi
T
awil
a
;
Charles A.
T
horn
t
on
a
;
Richard
T
.
Moxley
III
a
;
T
he Regis
t
ry Scien
t
ific Advisory Commi
tt
ee
1
;
2
关键词:
CC
T
G
;
cy
t
osine (C)
;
t
hymine (T)
;
and guanine (G)
;
nucleo
t
ides
t
ha
t
are repe
t
i
t
ive and cause myo
t
onic dys
t
rophy
t
ype 2
;
C
T
G
;
cy
t
osine (C)
;
t
hymine (T)
;
and guanine (G)
;
nucleo
t
ides
t
ha
t
are repe
t
i
t
ive and cause myo
t
onic dys
t
rophy
t
ype 1
;
FSHD
;
facioscapulo
刊名:Con
t
emporary Clinical Trials
出版年:2012
3.
Informed consen
t
process for pa
t
ien
t
par
t
icipa
t
ion in rare disease regis
t
ries linked
t
o bioreposi
t
ories
作者:
Yaffa R. Rubins
t
ein
a
;
1
;
rubins
t
y@mail.nih.gov
;
S
t
ephen C. Grof
t
a
;
1
;
Sara Hull Chandros
b
;
Julie Kaneshiro
c
;
Barbara Karp
d
;
Nicole C. Lockhar
t
e
;
Pa
t
ricia A. Marshall
f
;
Richard
T
.
Moxley
III
g
;
Geraldine B. Pollen
a
;
Vanessa Rangel Miller
h
;
Jack Schwar
t
z
i
刊名:Con
t
emporary Clinical Trials
出版年:2012
4.
SCREENING FOR ARRHY
T
HMOGENIC MYOCARDIAL SUBSTRATE BY 12-LEAD ECG QRS SCORE, QRS-T ANGLE, LATE POTENTIALS AND T-WAVE ALTERNANS
作者:
Na
t
han Mew
t
on
;
Pa
t
ricia Rizzi
;
David S
t
rauss
;
Richard
L. Verrier
;
Bruce Nearing
;
Larisa
T
ereshchenko
;
John
Moxley
;
Francis E. Marchlinsky
;
Ka
t
herine C. Wu
;
T
ony Killian
;
Chia Ying Liu
;
Chris
t
opher Cox
;
Pe
t
er M. Spooner
;
Joao AC Lima
刊名:Journal of
t
he American College of Cardiology
出版年:2012
5.
Brain me
t
abolism and cogni
t
ive impairmen
t
in HIV infec
t
ion: a 3-T magne
t
ic resonance spec
t
roscopy s
t
udy
作者:
Mona A. Mohamed
;
Pe
t
er B. Barker
;
Richard
L. Skolasky
;
Ola A. Selnes
;
Richard
T
.
Moxley
;
Mar
t
in G. Pomper
;
Ned C. Sack
t
or
关键词:
HIV demen
t
ia
;
MR spec
t
roscopy
;
Glu
t
ama
t
e
;
Glx
刊名:Magne
t
ic Resonance Imaging
出版年:2010
6.
Scaled-down gene
t
ic analysis of myo
t
onic dys
t
rophy
t
ype 1 and
t
ype 2
作者:
Masayuki Nakamori
;
Krzysz
t
of Sobczak
;
Richard
T
.
Moxley
III
;
Charles A.
T
horn
t
on
关键词:
Myo
t
onic dys
t
rophy
;
C
T
G repea
t
;
Rolling circle amplifica
t
ion
;
Locked nucleic acid
刊名:Neuromuscular Disorders
出版年:2009
7.
Delayed Diagnosis in Duchenne Muscular Dys
t
rophy: Da
t
a from
t
he Muscular Dys
t
rophy Surveillance, Tracking, and Research Ne
t
work (MD STARne
t
)
作者:
Emma Ciafaloni
;
Deborah J. Fox
;
Shree P
;
ya
;
Chris
t
ina P. Wes
t
field
;
Soman Puzhankara
;
Paul A. Romi
tt
i
;
Ka
t
herine D. Ma
t
hews
;
T
imo
t
hy M. Miller
;
Dennis J. Ma
tt
hews
;
Lisa A. Miller
;
Chris
t
opher Cunniff
;
Charlo
tt
e M. Druschel
;
Richard
T
.
Moxley
刊名:
T
he Journal of Pedia
t
rics
出版年:2009
8.
T
he Nondys
t
rophic Myo
t
onias
作者:
Chad R. Hea
t
wole
;
Richard
T
.
Moxley
III
关键词:
Nondys
t
rophic myo
t
onia
;
Becker’
;
s disease
;
T
homsen’
;
s disease
;
myo
t
onia levior
;
paramyo
t
onia congeni
t
a
;
hyperkalemic periodic paralysis wi
t
h myo
t
onia
刊名:Neuro
t
herapeu
t
ics
出版年:2007
9.
Confirma
t
ion of
t
he Type 2 Myo
t
onic Dys
t
rophy (CCTG)
n
作者:
Linda L. Bachinski
;
Bjarne Udd
;
Giovanni Meola
;
Valeria Sansone
;
Guillaume Bassez
;
Bruno Eymard
;
Charles A.
T
horn
t
on
;
Richard
T
.
Moxley
;
Pe
t
er S. Harper
;
Mark
T
. Rogers
;
Karin Jurka
t
-Ro
tt
;
Frank Lehmann-Horn
;
T
homas Wieser
;
Josep Gamez
;
Carmen Navarro
;
Arm
;
Bo
tt
ani
;
Andre Kohler
;
Mark D. Shriver
;
Ri
刊名:
T
he American Journal of Human Gene
t
ics
出版年:2003
10.
Expanded CUG Repea
t
s Trigger Aberran
t
Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexci
t
abili
t
y of Skele
t
al Muscle in Myo
t
onic Dys
t
rophy
作者:
Ami Mankodi
;
Masanori P.
T
akahashi
;
Hong Jiang
;
Carol L. Beck
;
William J. Bowers
;
Richard
T
.
Moxley
;
S
t
ephen C. Cannon and Charles A. Thorn
t
on
刊名:Molecular Cell
出版年:2002
1
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