Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

(2015) Wahiba Hamza et al.   BMC Medical Genetics

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

(2015) Matthis Synofzik et al.   JOURNAL OF NEUROLOGY

The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne’s thread

(2014) M. Mancuso et al.   JOURNAL OF NEUROLOGY

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

(2013) P. Bauer et al.   HUMAN MOLECULAR GENETICS

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

(2013) James E. Wraith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

(2013) J. Schicks et al.   NEUROLOGY

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

(2012) F. A. Wijburg et al.   NEUROLOGY

Reviewing the genetic causes of spastic-ataxias

(2012) S. T. de Bot et al.   NEUROLOGY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

(2009) M. Anheim et al.   NEUROGENETICS