2018
Treatment of Neurological Symptoms in Wilson Disease
Vives-Rodriguez A, Robakis D, Bamford N. Treatment of Neurological Symptoms in Wilson Disease. Clinical Gastroenterology 2018, 107-120. DOI: 10.1007/978-3-319-91527-2_6.Peer-Reviewed Original ResearchNeurological symptomsWilson's diseaseNeurological manifestationsTherapeutic optionsMovement disordersCommon neurological manifestationsDifferent therapeutic optionsResidual neurological symptomsUse of medicationsBrain copper accumulationQuality of lifeGait impairmentPartial improvementNeurological aspectsSymptomsDiseaseDisordersManifestationsCopper accumulationMost casesMedicationsDystoniaParkinsonismPatientsOptions
2009
Neuromuscular hip dysplasia in Charcot–Marie–Tooth disease type 1A
BAMFORD NS, WHITE KK, ROBINETT SA, OTTO RK, GOSPE SM. Neuromuscular hip dysplasia in Charcot–Marie–Tooth disease type 1A. Developmental Medicine & Child Neurology 2009, 51: 408-411. PMID: 19388151, DOI: 10.1111/j.1469-8749.2008.03234.x.Peer-Reviewed Original ResearchConceptsNeuromuscular hip dysplasiaHip dysplasiaClinical signsCharcot-MarieType 1AInconsistent clinical signsInitial clinical signsTooth disease type 1ACMT type 1APeripheral neuropathyHip diseaseOrthopedic abnormalitiesTooth diseaseNeurological disordersCMT 1A.DysplasiaFrequent formDiseaseSignsChildrenConsiderable variabilityNeuropathySymptomsAbnormalitiesDiagnosis