Mutations in SEPT9 cause hereditary neuralgic amyotrophy
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SEPTIN12 genetic variants confer susceptibility to teratozoospermiaProgress in genetic studies of pain and analgesiaSEPT12 mutations cause male infertility with defective sperm annulusA novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism.The neuralgic amyotrophy consultationThe expression level of septin12 is critical for spermiogenesisMutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HThe cytoskeleton in cell-autonomous immunity: structural determinants of host defenceSeptins regulate bacterial entry into host cellsFungal septins: one ring to rule it all?SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.Role of nucleotide binding in septin-septin interactions and septin localization in Saccharomyces cerevisiaeDuplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophyAlternative splicing of sept9a and sept9b in zebrafish produces multiple mRNA transcripts expressed throughout developmentA draft of the human septin interactome.Changes in Bni4 localization induced by cell stress in Saccharomyces cerevisiae.A role for septins in the interaction between the Listeria monocytogenes INVASION PROTEIN InlB and the Met receptorProteomic identification of proteins in the human brain: Towards a more comprehensive understanding of neurodegenerative diseaseSeptin functions in organ system physiology and pathology.Cytosolic chaperones mediate quality control of higher-order septin assembly in budding yeast.Spinal cord trauma and the molecular point of no returnParsonage-Turner syndromeAcute brachial neuritis following influenza vaccination.Surgical and postpartum hereditary brachial plexus attacks and prophylactic immunotherapy.Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.Familial risks for nerve, nerve root and plexus disorders in siblings based on hospitalisations in Sweden.Superfluous role of mammalian septins 3 and 5 in neuronal development and synaptic transmission.An atypical case of neuralgic amyotrophy with respiratory muscle weakness: case report and review of literature.Septin 11 is present in GABAergic synapses and plays a functional role in the cytoarchitecture of neurons and GABAergic synaptic connectivity.Conquering the complex world of human septins: implications for health and disease.SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy.Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules.Inherited neuropathies: clinical overview and update.Higher-order septin assembly is driven by GTP-promoted conformational changes: evidence from unbiased mutational analysis in Saccharomyces cerevisiaePMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Septin 9_i2 is downregulated in tumors, impairs cancer cell migration and alters subnuclear actin filaments.Clinical and pathophysiological concepts of neuralgic amyotrophy.Mammalian septins: dynamic heteromers with roles in cellular morphogenesis and compartmentalization.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.Neuralgic amyotrophy: An update on diagnosis, pathophysiology, and treatment.
P2860
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P2860
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
name
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@ast
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@en
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@nl
type
label
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@ast
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@en
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@nl
prefLabel
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@ast
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@en
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
@en
P2093
Adolfo Pou Serradell
Anja Schirmacher
Benjamin G Betz
E Bernd Ringelstein
Eila Airaksinen
Florian Stögbauer
Gert Kurlemann
Giles D J Watts
Gregor Kuhlenbäumer
Hartmut Halfter
P2860
P2888
P304
P356
10.1038/NG1649
P407
P50
P577
2005-10-01T00:00:00Z