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

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

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

Ataxia rating scales are age-dependent in healthy children

(2014) Rick Brandsma et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Nomograms of cerebellar vermis height and transverse cerebellar diameter in appropriate-for-gestational-age neonates

(2013) Ebru Yalin Imamoglu et al.   EARLY HUMAN DEVELOPMENT

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Quantitative evaluation of the fetal cerebellar vermis using the median view on three-dimensional ultrasound

(2012) Dan Zhao et al.   PRENATAL DIAGNOSIS

The cerebellar cognitive profile

(2011) Anna M. Tedesco et al.   BRAIN

In children with Friedreich ataxia, muscle and ataxia parameters are associated

(2011) DEBORAH A SIVAL et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

(2011) Ana Isabel Vega et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

(2011) Samira Achouitar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases

(2011) Belén Pérez et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

(2010) Merce Pineda et al.   MOVEMENT DISORDERS

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