Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
about
The cytoskeletal protein Ndel1 regulates dynamin 2 GTPase activityCollapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratodermaDysfunctions of neuronal and glial intermediate filaments in diseaseCharcot-Marie-Tooth disease and intracellular trafficCell stress promotes the association of phosphorylated HspB1 with F-actinCollaboration for rare disease drug discovery researchGiant axonal neuropathy: An updated perspective on its pathology and pathogenesis.NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.Organization and maintenance of molecular domains in myelinated axonsPelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.Neurofilament proteins in axonal regeneration and neurodegenerative diseases.Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.A Stochastic Multiscale Model That Explains the Segregation of Axonal Microtubules and Neurofilaments in Neurological Diseases.Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.Study of Autophagy and Microangiopathy in Sural Nerves of Patients with Chronic Idiopathic Axonal Polyneuropathy.Expression of Bis in the mouse gastrointestinal system.Axonal and periaxonal swelling precede peripheral neurodegeneration in KCC3 knockout mice.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Processing of nerve biopsies: a practical guide for neuropathologists.Molecular mechanisms of inherited demyelinating neuropathies.Conformational properties of interacting neurofilaments: Monte Carlo simulations of cylindrically grafted apposing neurofilament brushes.Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.The aqueous layers within the myelin sheath modulate the membrane properties of simulated hereditary demyelinating neuropathies.Demyelinating prenatal and infantile developmental neuropathies.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.Neurofilament dynamics and involvement in neurological disorders.Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Early and Late Loss of the Cytoskeletal Scaffolding Protein, Ankyrin G Reveals Its Role in Maturation and Maintenance of Nodes of Ranvier in Myelinated Axons.[Genetics of neuropathies].Ultrasound: the future for evaluating the PNS in humans?Neuronal structural protein polymorphism and concussion in college athletes.NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.Considerable post-partum worsening in a patient with CMT2E.
P2860
Q21136034-99341274-499A-4E15-A883-4DE1B9C17894Q24339592-6307F9E9-1FE6-4D0A-A92E-A649189CEC26Q24657653-48547AC1-A22E-4941-82BA-68E863157274Q26824841-794B3AD4-A769-42D1-AA4F-C08315A23CD0Q28534605-C7BD6B15-779B-4D18-AABE-4A64AB11973BQ28650560-F560371E-3DAC-4434-81DE-F593581D8648Q30363784-80716EEF-D61B-4725-8A74-9AFF4B6AAE90Q31030793-14C12735-F935-46C8-9B0A-4A9BF5AAE6CDQ33622527-6A21526D-560A-4FFA-B9BC-62E36FAFFA24Q33726825-582D0304-6131-4BB7-B336-E2228106906EQ34381818-74DD7AE0-FE28-41CC-99E2-3E4E3C4785A5Q35139324-DFC94213-AC20-40E4-A6E4-18E8B402D240Q35198918-DD6FD5B0-789F-4D6E-AD4D-F4EDF12554F5Q35629933-D00AB990-BD22-4587-A599-CA2FA5A2C2A1Q35748905-09DC5411-E66F-4826-B41B-0821C9FC750FQ35892764-034CC580-CDD1-4012-A1F0-F19E26CB1235Q36143226-79527E47-EB91-49EE-9DC9-7D308267FF96Q36319932-C8C78DF5-4AFB-4526-85FF-107A7ED3437CQ36459381-50ED57FC-7BE3-4DDA-8829-67B3826131BDQ36753688-0455A30C-7C65-45E5-AC82-FE0F91FA0D2CQ36873439-C44F8D95-A5F5-4E00-A9E7-C5F5B147BB8CQ36942808-42605090-BE81-4A4C-AC96-727D07649254Q36946281-EDA17253-9731-4B8B-B03D-40041091D9FCQ37147147-3E47A370-7B8D-4457-B2BC-A040D097D64CQ37855764-88732C12-948C-4DE6-852D-A3C876350E50Q37998518-4B406F10-3789-4E07-B331-AF7BB76A0885Q38042727-44ED92FC-E1DF-46D4-8CA7-958A72D59847Q38126454-1EF2DD4E-F488-44DF-B4FE-C6083E77F357Q38310624-680729D3-391A-4B18-B223-564AE6F539A6Q38787523-9F861BA6-974C-42EC-A242-4DB17AF055D5Q42010808-65344859-A8C1-4FB2-BB46-88E87DAB9DD0Q44461854-E1EA3CA3-1222-4E52-A29F-A8EC03BA2060Q48790812-57B7B5C9-645C-4013-9CB7-755E1A0BCFFAQ48910609-A2EB63B8-6AEB-414C-B76E-CB274F1AA6E3Q50448017-F7E2E817-CC96-490C-92F6-C3C2668A1639Q51484414-1CAAFFF5-E353-4A05-8D42-5E134C7C6B55Q52692587-B3D31559-DF02-4503-AB28-AB68A888B193Q54645910-8096FCF3-35B1-4E49-8969-B7D6AB7A506A
P2860
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
description
2007 nî lūn-bûn
@nan
2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@ast
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@en
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@en-gb
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@nl
type
label
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@ast
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@en
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@en-gb
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@nl
prefLabel
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@ast
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@en
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@en-gb
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@nl
P2093
P921
P3181
P356
P1433
P1476
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
@en
P2093
Chiara Angiari
Federica Taioli
Gian Maria Fabrizi
Giovanni Malerba
Ilaria Cabrini
Laura Bertolasi
Nicoló Rizzuto
Tiziana Cavallaro
P304
P3181
P356
10.1093/BRAIN/AWL284
P407
P577
2007-02-01T00:00:00Z