设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
SpringerLink电子期刊(3)
Elsevier电子期刊(21)
在“
Elsevier电子期刊
”中,
命中:
21
条,耗时:小于0.01 秒
在所有数据库中总计命中:
24
条
1.
Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts
作者:
Anne Polvi
1
;
2
;
3
;
Tarja Linnankivi
4
;
Tero Kivelä
;
5
;
Riitta Herva
6
;
James
;
P. Keating
7
;
Outi Mä
;
kitie
1
;
8
;
Davide Pareyson
9
;
Leena Vainionpä
;
ä
;
10
;
Jenni Lahtinen
11
;
Iiris Hovatta
11
;
12
;
Helena
Pihko
4
;
Anna-Elina Lehesjoki
1
;
2
;
3
;
anna-elina.lehesjoki@helsinki.fi
刊名:The American Journal of Human Genetics
出版年:2012
2.
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
作者:
Prof Anu Suomalainen MD
a
;
b
;
e
;
anu.wartiovaara@helsinki.fi"" rel=""nofollow
;
Jenni M Elo MB
a
;
‡
;
;
Kirsi H Pietilä
;
inen MD
b
;
d
;
‡
;
;
Anna H Hakonen MD
a
;
Ksenia Sevastianova MD
c
;
Mari Korpela MD
e
;
Pirjo Isohanni MD
a
;
f
;
Sanna K Marjavaara PhD
a
;
Tiina Tyni MD
a
;
f
;
Sari Kiuru-Enari MD
e
;
Prof
Helena
Pihko
MD
f
;
Niklas Darin MD
l
;
Katrin Õ
;
unap MD
i
;
Leo AJ Kluijtmans MD
j
;
Anders Paetau MD
g
;
Jana Buzkova MSc
a
;
Prof Laurence A Bindoff MD
m
;
Johanna Annunen-Rasila MD
h
;
Johanna Uusimaa MD
h
;
Prof Aila Rissanen MD
d
;
Prof Hannele Yki-Jä
;
rvinen MD
c
;
Michio Hirano MD
k
;
Prof Mar Tulinius MD
l
;
Prof Jan Smeitink MD
j
;
Henna Tyynismaa PhD
a
刊名:Lancet Neurology
出版年:2011
3.
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
作者:
Ulrike Schara
;
Hans-Jü
;
rgen Christen
;
Hacer Durmus
;
Marja Hietala
;
Kerstin Krabetz
;
Carmelo Rodolico
;
Gudrun Schreiber
;
Haluk Topaloglu
;
Beril Talim
;
Wolfgang Voss
;
Helena
Pihko
;
Angela Abicht
;
Ju
关键词:
Congenital myasthenic syndromes
;
Choline acetyltransferase
;
CHAT
;
Repetitive stimulation test
;
Acetylcholinesterase
;
Inhibitors
刊名:European Journal of Paediatric Neurology
出版年:2010
4.
Skeletal dysplasia presenting as a neuromuscular disorder – report of three children
作者:
Jonas Bondestam
;
Helena
Pihko
;
Sanna-Leena Vanhanen
;
Antti Br
;
er
;
Sanna Toiviainen-Salo
;
Eino Marttinen
;
Outi Mä
;
kitie
关键词:
Multiple epiphyseal dysplasia
;
Camurati–
;
Engelmann disease
;
Chondrodysplasia
;
Dopa-sensitive dystonia
刊名:Neuromuscular Disorders
出版年:2007
5.
Pirkko Santavuori 1933–2004
作者:
Helena
Pihko
关键词:
Diabetes
;
Hemiparesis
;
Migraine
;
Hemiplegic migraine
;
Stroke
刊名:European Journal of Paediatric Neurology
出版年:2004
6.
Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness
作者:
Lö
;
nnqvist
;
Tuula
;
Pihko
;
Helena
关键词:
Persistent toe walking
;
Hereditary neuropathy with liability to pressure palsies
刊名:Neuromuscular Disorders
出版年:2003
7.
Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness
作者:
Lö
;
nnqvist
;
Tuula
;
Pihko
;
Helena
关键词:
Persistent toe walking
;
Hereditary neuropathy with liability to pressure palsies
刊名:Neuromuscular Disorders
出版年:2003
8.
Pirkko Santavuori 1933–2004
作者:
Pihko
;
Helena
刊名:Neuromuscular Disorders
出版年:2004
9.
Muscle-eye-brain disease: Clinical features, visual evoked potentials and brain imaging in 20 patients
作者:
Pirkko Santavuori
;
Leena Valanne
;
Taina Autti
;
Matti Haltia
;
Helena
Pihko
;
Kimmo Sainio
关键词:
Visual evoked potentials
;
Postmortem magnetic resonance imaging
;
Signal intensities
;
Muscle-eye-brain disease
;
Congenital muscular dystrophy
刊名:European Journal of Paediatric Neurology
出版年:1998
10.
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features
作者:
Lö
;
nnqvist
;
Tuula
;
Paetau
;
Anders
;
Nikali
;
Kaisu
;
von Boguslawski
;
Kristina
;
Pihko
;
Helena
关键词:
IOSCA
;
FRDA
;
Neuropathology
;
Hereditary ataxias
刊名:Journal of the Neurological Sciences
出版年:1998
1
2
3
按检索点细分(21)
作者(21)
按出版年细分(21)
2012年(1)
2011年(1)
2010年(1)
2007年(1)
2004年(2)
2003年(2)
2000年及以前(13)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.