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

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

The natural history of cerebellar degeneration of Niemann-Pick C mice monitoredin vitro

(2014) Nils Marschalek et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

Hereditäre Ataxien

(2013) M. Synofzik et al.   Medizinische Genetik

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

(2013) J. Schicks et al.   NEUROLOGY

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

(2013) Michael Zech et al.   PLoS One

Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging

(2012) Matthis Synofzik et al.   CEREBELLUM

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

(2012) Muneaki Matsuo et al.   MOLECULAR GENETICS AND METABOLISM

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

ATAXIA WITH OPHTHALMOPLEGIA OR SENSORY NEUROPATHY IS FREQUENTLY CAUSED BY POLG MUTATIONS

(2009) C. Schulte et al.   NEUROLOGY

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION