Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

(2015) Mercedes Serrano et al.   Orphanet Journal of Rare Diseases

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

(2014) Hudson H. Freeze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

(2014) Rita Barone et al.   JOURNAL OF NEUROLOGY

The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

(2012) P. Feraco et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

(2011) L. Eichler et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A new sulcus-corrected approach for assessing cerebellar volume in spinocerebellar ataxia

(2011) Carsten Lukas et al.   PSYCHIATRY RESEARCH-NEUROIMAGING

Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

(2008) B. Pérez-Dueñas et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY