相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Substrate Specificity of Human Carboxypeptidase A6
Peter J. Lyons et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Ingrid E. Scheffer et al.
BRAIN & DEVELOPMENT (2009)
Common vs. rare allele hypotheses for complex diseases
Nicholas J. Schork et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2009)
LGI1 Mutations in Autosomal Dominant and Sporadic Lateral Temporal Epilepsy
Carlo Nobile et al.
HUMAN MUTATION (2009)
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig et al.
NATURE GENETICS (2009)
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS
A. Poduri et al.
NEUROLOGY (2009)
Mechanisms of human inherited epilepsies
Christopher A. Reid et al.
PROGRESS IN NEUROBIOLOGY (2009)
A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis
Giuseppe Di Fede et al.
SCIENCE (2009)
A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome
Nanda A. Singh et al.
PLOS GENETICS (2009)
A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Alexander G. Bassuk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
A novel locus for generalized epilepsy with febrile seizures plus in French families
Stephanie Baulac et al.
ARCHIVES OF NEUROLOGY (2008)
Galanin and epilepsy
J. T. Lerner et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2008)
A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33
Xiao-Hua Dai et al.
HUMAN GENETICS (2008)
Characterization of carboxypeptidase A6, an extracellular matrix peptidase
Peter J. Lyons et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Genetic Variation in an Individual Human Exome
Pauline C. Ng et al.
PLOS GENETICS (2008)
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3
P. Hedera et al.
NEUROLOGY (2007)
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p
R. Nabbout et al.
NEUROLOGY (2007)
Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
Gregory V. Kryukov et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22
Peter Hedera et al.
EPILEPSIA (2006)
Brain neurotensin, psychostimulants, and stress -: emphasis on neuroanatomical substrates
Stefanie Geisler et al.
PEPTIDES (2006)
Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families
Ian M. Carr et al.
HUMAN MUTATION (2006)
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients
Arvid Suls et al.
HUMAN MUTATION (2006)
A novel GABRG2 mutation associated with febrile seizures
D. Audenaert et al.
NEUROLOGY (2006)
A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus
D Audenaert et al.
JOURNAL OF MEDICAL GENETICS (2005)
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia
A Garg et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Identification and distribution of mouse carboxypeptidase A-6
JD Fontenele-Neto et al.
MOLECULAR BRAIN RESEARCH (2005)
Brain angiotensin II: New developments, unanswered questions and therapeutic opportunities
JM Saavedra
CELLULAR AND MOLECULAR NEUROBIOLOGY (2005)
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation
T Pisano et al.
EPILEPSIA (2005)
Autosomal dominant lateral temporal epilepsy:: Two families with novel mutations in the LGI1 gene
P Hedera et al.
EPILEPSIA (2004)
Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures
L Claes et al.
JOURNAL OF MEDICAL GENETICS (2004)
Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18
J Nakayama et al.
NEUROLOGY (2004)
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies
LM Dibbens et al.
HUMAN MOLECULAR GENETICS (2004)
Autosomal dominant lateral temporal epilepsy: Clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families
R Michelucci et al.
EPILEPSIA (2003)
A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency
M Carakushansky et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2003)
A locus for simple pure febrile seizures maps to chromosome 6q22-q24
R Nabbout et al.
BRAIN (2002)
Finding genetic contributions to sporadic disease: A recessive locus at 12q24 commonly contributes to patent ductus arteriosus
A Mani et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
A nonsense mutation of the mass1 gene in a family with febrile and aebrile seizures
J Nakayama et al.
ANNALS OF NEUROLOGY (2002)
Detecting polymorphisms and mutations in candidate genes
JS Collins et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures
WL Gu et al.
ANNALS OF NEUROLOGY (2002)
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31
S Baulac et al.
ANNALS OF NEUROLOGY (2001)
First genetic evidence of GABAA receptor dysfunction in epilepsy:: a mutation in the γ2-subunit gene
S Baulac et al.
NATURE GENETICS (2001)
Clinical diversity of hereditary Duane's retraction syndrome
M Chung et al.
OPHTHALMOLOGY (2000)
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
A Escayg et al.
NATURE GENETICS (2000)
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2
I Lopes-Cendes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
J Nakayama et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
