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SpringerLink电子期刊(3)
在“
SpringerLink电子期刊
”中，
命中：
3
条，耗时：0.0189912 秒
在所有数据库中总计命中：
3
条
1.
Prevalence
of
inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
作者：
Saadet Mercimek-Mahmutoglu (1) (2) (6)
Sarah Sidky (1)
Keith Hyland (3)
Jaina Patel (1)
Elizabeth J Donner (4)
William Logan (4)
Roberto Mendoza-Londono (1)
Mahendranath Moharir (4)
Julian Raiman (1)
Andreas Schulze (1) (2)
Komudi Siriwardena (1)
Grace Yoon (1) (4)
Lianna Kyriakopoulou (5)
1. Division
of
Clinical and Metabolic
Genetics
;
Department
of
Pediatrics
;
University
of
Toronto
;
The Hospital for Sick Children
;
Toronto
;
Canada
2.
Genetics
and Genome Biology
;
Research Institute
;
The Hospital for Sick Children
;
Toronto
;
Canada
6. Division
of
Clinical and Metabolic
Genetics
;
Department
of
Pediatrics
;
University
of
Toronto
;
Genetic and Genome Biology
;
Research Institute
;
The Hospital for Sick Children
;
555 University Avenue
;
Toronto
;
ON M5G 1X8
;
Canada
3. Medical Neuro
genetics
;
LLC
;
Atlanta
;
GA
;
USA
4. Division
of
Neurology
;
Department
of
Pediatrics
;
University
of
Toronto
;
The Hospital for Sick Children
;
Toronto
;
Canada
5. Biochemical
Genetics
Laboratory
;
Department
of
Laboratory
Medicine
;
University
of
Toronto
;
The Hospital for Sick Children
;
Toronto
;
Canada
关键词：
Inherited neurotransmitter disorders
;
Genetics
;
Movement disorders
;
Monoamine metabolism
;
Pyridoxine metabolism
;
Epilepsy
刊名：Orphanet Journal
of
Rare Diseases
出版年：2015
2.
Novel Interactive Partners
of
Neuroligin 3: New Aspects for Pathogenesis
of
Autism
作者：
Chen Shen (1) (2)
Li-rong Huo (1) (3)
Xin-liang Zhao (1)
Pei-rong Wang (1)
Nanbert Zhong (1) (4)
1. Peking University Center
of
Medical
Genetics
;
Beijing 100191
;
China
2. Key
Laboratory
of
Major Diseases in Children
;
State Key Discipline
of
Pediatrics
of
Ministry
of
Education
;
Beijing Pediatric Research Institute and Beijing Children鈥檚 Hospital
;
Capital Medical University
;
Beijing 100045
;
China
3. Department
of
Neurology
;
Fu Xing Hospital
;
Capital Medical University
;
Beijing
;
100038
;
China
4. New York State Institute for Basic Research in Developmental Disabilities
;
1050 Forest Hill Road
;
Staten Island
;
NY
;
10314
;
USA
关键词：
NLGN3
;
Yeast two
;
hybrid
;
Co
;
immunoprecipitation
;
Protein
;
protein interaction
;
Co
;
localization
;
Cytosolic calcium
刊名：Journal
of
Molecular
Neuroscience
出版年：2015
3.
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
作者：
Carolyn M Yrigollen (4)
Loreto Martorell (5)
Blythe Durbin-Johnson (6)
Montserrat Naudo (5)
Jordi Genoves (5)
Alessandra Murgia (
7
)
Roberta Polli (
7
)
Lili Zhou (8)
Deborah Barbouth (9)
Abigail Rupchock (9)
Brenda Finucane (10)
Gary J Latham (11)
Andrew Hadd (11)
Elizabeth Berry-Kravis (8)
Flora Tassone (12) (4)
4. Department
of
Biochemistry and
Molecular
Medicine
;
University
of
California
;
Davis
;
School
of
Medicine
;
2
7
00 Stockton Blvd.
;
Suite 2102
;
Sacramento
;
CA
;
9581
7
;
USA
5.
Molecular
Genetics
Section
;
Hospital Sant Joan de D茅u
;
Barcelona
;
Spain
6. Department
of
Public Health Sciences
;
University
of
California
;
Davis
;
Davis
;
CA
;
USA
7
.
Laboratory
of
Molecular
Genetics
of
Neurodevelopment
;
Department
of
Women鈥檚 and Children鈥檚 Health
;
University
of
Padova
;
Padova
;
Italy
8. Department
of
Pediatrics
;
Neurological Sciences
;
and Biochemistry
;
Rush University Medical Center
;
Chicago
;
IL
;
USA
9. Dr. John T. Macdonald Foundation
;
Department
of
Human
Genetics
;
Miller School
of
Medicine
;
University
of
Miami
;
Miami
;
FL
;
USA
10. Geisinger Autism and Developmental Medicine Institute
;
Lewisburg
;
PA
;
USA
11. Asuragen
;
Inc.
;
Austin
;
TX
;
USA
12. MIND Institute
;
University
of
California
;
Davis
;
School
of
Medicine
;
Davis
;
CA
;
USA
关键词：
AGG interruptions
;
premutation
;
FMR1
;
gray/intermediate allele
;
full mutation
;
risk
of
expansion
刊名：Journal
of
Neurodevelopment
al Disorders
出版年：2014
1
按检索点细分(3)
作者(1)
按出版年细分(3)
2015年(2)
2014年(1)
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