2020
Utility of intrathecal baclofen pump in primary lateral sclerosis
Zubair AS, Raymond M, Patwa HS. Utility of intrathecal baclofen pump in primary lateral sclerosis. Journal Of The Neurological Sciences 2020, 420: 117227. PMID: 33239209, DOI: 10.1016/j.jns.2020.117227.Peer-Reviewed Original ResearchConceptsPrimary lateral sclerosisLateral sclerosisProgressive upper motor neuron dysfunctionLower motor neuron involvementUpper motor neuron dysfunctionMigration of catheterMotor neuron involvementIntrathecal baclofen pumpMotor neuron dysfunctionSpinal cord injuryLower extremity stiffnessAshworth scoreNeuron involvementBaclofen pumpIntrathecal baclofenClinical courseInsidious onsetMuscle spasticityPLS patientsNeuron dysfunctionCord injuryNeurologic conditionsClinical examinationEffective treatmentSpasticity
2013
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 3489-3494. PMID: 23359680, PMCID: PMC3587195, DOI: 10.1073/pnas.1222732110.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge of OnsetAmino Acid SequenceBase SequenceChild, PreschoolExomeFemaleGenes, RecessiveHomozygoteHumansHydrolysisMaleModels, MolecularMolecular Sequence DataMutation, MissenseNerve DegenerationNeuronsPedigreeProtein BindingSequence Analysis, DNASubstrate SpecificitySyndromeThermodynamicsUbiquitinUbiquitin ThiolesteraseConceptsUbiquitin C-terminal hydrolase L1Upper motor neuron dysfunctionMotor neuron dysfunctionProgressive neurodegenerative syndromeEarly-onset progressive neurodegenerationChildhood-onset blindnessWhole-exome sequencingNeuron dysfunctionHomozygous missense mutationIndex caseNervous systemProgressive neurodegenerationNeurodegenerative syndromeCerebellar ataxiaHydrolase activityNear complete lossComplete lossAffected individualsConsanguineous unionsMissense mutationsRecessive lossHomozygosity mappingProper positioningReduced affinitySpasticity
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