Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
about
The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIαLoss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaLoss of association of REEP2 with membranes leads to hereditary spastic paraplegiaProtrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formationMedical genomics: The intricate path from genetic variant identification to clinical interpretationAdaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegiaQuantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective SpastinDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyProtrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegiaDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesHomozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.PMCA4 (ATP2B4) mutation in familial spastic paraplegia.Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudyInteraction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature reviewInherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Souffle/Spastizin controls secretory vesicle maturation during zebrafish oogenesis.Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic ParaplegiaEvidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutationPharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development.Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindredSpastin binds to lipid droplets and affects lipid metabolism.Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners.Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseAlteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaA novel ER-microtubule-binding protein, ERLIN2, stabilizes Cyclin B1 and regulates cell cycle progression.Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.Genetic and phenotypic characterization of complex hereditary spastic paraplegiaDefective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15Severe axonal neuropathy is a late manifestation of SPG11.Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings.Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.Fishing for causes and cures of motor neuron disorders.Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.
P2860
Q24292907-659B8C03-36BD-40F7-BCEE-6469A168BE22Q24310003-9CE6D793-902D-4FD6-8456-701866127AA7Q24317205-88D0B445-049D-4D51-83F3-62FE23E2E0CBQ24318948-49D4B2E5-5C87-4508-87B6-2EA15A1EBEB3Q26824974-5974FD34-BB48-45C5-B195-CD9FF4A863B9Q27006680-C327A3B9-A20D-4F61-AA21-7975EE1B0906Q27316215-C8E87FB0-F5FD-4008-96F9-6566B2E4050AQ28081453-BE91F932-F607-4F3D-9A49-86D455F57012Q28118650-32128EAB-2177-43D7-80A2-CB3EABDB8E8DQ28387241-1FEF3B51-2625-4956-B413-A8D4757F6277Q30315554-47631B3C-7190-4386-BFD4-B10A650A2A06Q30365670-E4258032-8D30-49ED-A96E-41B7E0CE24D4Q30385319-E0D6B423-8C59-4392-A361-CE5F42B2AAE3Q30542951-E245CFD5-B5FD-424B-8513-1431E28B0B62Q30624410-13049054-85BB-4408-B864-021B9CF4A102Q30836852-493852C0-D6E2-407D-BA7D-8F02AD3B8E69Q33786829-B75FCAB2-4393-4383-AA72-699D93E5424BQ33811885-4A23E6F6-018B-4AA3-AFEC-B203A0CCA920Q33835343-8763046C-2AEF-482A-919C-E41C31BABF0CQ33911703-355FC7E3-A102-4674-8E18-54E93D86B5E4Q34215694-AA525351-BF8E-407E-A292-01CA834D6BBAQ34307291-A53CB6AE-866E-4015-ACE9-5FA7D0B94697Q34313405-E453D76C-E625-496C-AC08-4C1D3C1173BBQ34391922-8FA902BE-A202-4349-9C5D-BBF52D1AD73AQ34497770-219E836F-109B-4D9B-9C01-AF3C59305A4CQ35136971-7F8594AA-B763-40BB-A041-623673934062Q35392007-5F19035B-50C6-4428-83D1-EBE29A0BCD47Q35591871-C77967D5-3D6C-4FDD-B109-932928CCFB3BQ35924080-73874111-F2F2-48F1-8BF9-A9D8689F0391Q36008185-98A2B7A9-7DDD-45AF-AEB2-0E435465E89FQ36882828-610ADC43-95FB-40B7-9F26-276D353B13FCQ37010397-8901F9F7-0475-4B33-9331-D8A358329ECFQ37081945-37A64561-084D-4E9C-89C1-5C2E6AD3A54FQ37200313-18AE3189-B792-4977-928F-A68E2DDF07C5Q37342355-68C3C79F-91A1-480E-A9EC-2FD4A0B7EB49Q37492378-9394A8F6-8C03-40B8-ADE0-CD1FE5766D57Q37497099-E980E184-CF12-4AD9-A059-BDF3C4D67699Q37739888-73FBA90E-927C-4F63-89A1-C037E977302AQ38224042-E3DA61FA-C385-40A0-8609-03CF55FE9C58Q38283644-939B473E-56C3-4BD8-879C-BF544B725F58
P2860
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Hereditary spastic paraplegias ...... maternal trait of inheritance.
@en
type
label
Hereditary spastic paraplegias ...... maternal trait of inheritance.
@en
prefLabel
Hereditary spastic paraplegias ...... maternal trait of inheritance.
@en
P2093
P50
P1476
Hereditary spastic paraplegias ...... maternal trait of inheritance.
@en
P2093
Josef Finsterer
Julia Wanschitz
Stefan Quasthoff
P356
10.1016/J.JNS.2012.03.025
P577
2012-05-01T00:00:00Z