Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová, +14

The American Journal of Human Genetics

Linkage MappingNeurogenomicsGeneticsPathologyNeurochemical Biomarkers +19

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Michael Fietz, Moeenaldeen AlSayed, Derek Burke, +15

Molecular Genetics and Metabolism

Creutzfeldt-jakob DiseaseNeurological DisorderExpert RecommendationsDiagnosisPathology +14

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

Helena Jahnová, Lenka Dvořáková, Hana Vlášková, +4

Orphanet Journal of Rare Diseases

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Ladislav Kuchař, Jakub Sikora, Maria Gulinello, +5

Analytical Biochemistry

C DiseasesPlasmatic LysosphingomyelinNeurological DisorderInherited Metabolic DiseaseHematology +6

Long‐term survival outcomes of patients with <scp>Niemann‐Pick</scp> disease type C receiving miglustat treatment: A large retrospective observational study

Marc C. Patterson, William S. Garver, R. Giugliani, +10

Journal of Inherited Metabolic Disease

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

Blanka Stibůrková, Ivan Šebesta, Kimiyoshi Ichida, +5

European Journal of Human Genetics

Allelic VariantUrologyRenal FunctionPrevalent MutationMedicine +11

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Shaun Bolton, Vina Soran, M. Pineda, +17

Orphanet Journal of Rare Diseases

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

Mercédes Pineda, Eugen Mengel, Helena Jahnová, +9

BMC Pediatrics

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease

Helena Jahnová, Helena Poupětová, Jitka Jirečková, +7

Journal of Neurology

Clinical DisordersNeurodegenerative DiseasesPsychopathologyPsychiatric DiseasePsychiatry +11

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová, +14

The American Journal of Human Genetics

Molecular NeuroscienceGenetic DisorderGeneticsPathologyMedicine +2