Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

Single-subject SPM FDG-PET patterns predict risk of dementia progression in Parkinson disease

(2018) Andrea Pilotto et al.   NEUROLOGY

Strategic roadmap for an early diagnosis of Alzheimer's disease based on biomarkers

(2017) Giovanni B Frisoni et al.   LANCET NEUROLOGY

Application of the movement disorder society prodromal Parkinson's disease research criteria in 2 independent prospective cohorts

(2017) Andrea Pilotto et al.   MOVEMENT DISORDERS

Association between CSF biomarkers, hippocampal volume and cognitive function in patients with amnestic mild cognitive impairment (MCI)

(2017) Pradeep J. Nathan et al.   NEUROBIOLOGY OF AGING

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria

(2017) E. Boot et al.   PSYCHOLOGICAL MEDICINE

Key European guidelines for the diagnosis and management of patients with phenylketonuria

(2017) Francjan J van Spronsen et al.   Lancet Diabetes & Endocrinology

Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria

(2016) Shawn E. Christ et al.   MOLECULAR GENETICS AND METABOLISM

Presymptomatic cortical thinning in familial Alzheimer disease

(2016) Philip S.J. Weston et al.   NEUROLOGY

Impaired Neurotransmission in Early-treated Phenylketonuria Patients

(2016) María Julieta González et al.   Seminars in Pediatric Neurology

Lewy body dementias

(2015) Zuzana Walker et al.   LANCET

Functional genetic variation in the serotonin 5-HTTLPR modulates brain damage in frontotemporal dementia

(2015) Enrico Premi et al.   NEUROBIOLOGY OF AGING

Management of adult patients with phenylketonuria: survey results from 24 countries

(2014) Friedrich K. Trefz et al.   EUROPEAN JOURNAL OF PEDIATRICS

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

(2014)   GENETICS IN MEDICINE

Neurocognitive Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria

(2014) Rianne Jahja et al.   JOURNAL OF PEDIATRICS

Organization of Monosynaptic Inputs to the Serotonin and Dopamine Neuromodulatory Systems

(2014) Sachie K. Ogawa et al.   Cell Reports

A comparison of phenylketonuria with attention deficit hyperactivity disorder: Do markedly different aetiologies deliver common phenotypes?

(2013) M. Stevenson et al.   BRAIN RESEARCH BULLETIN

In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria

(2012) Tiziana Pascucci et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A volumetric study of basal ganglia structures in individuals with early-treated phenylketonuria

(2012) Kimberly E. Bodner et al.   MOLECULAR GENETICS AND METABOLISM

Visual functions in phenylketonuria—evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses

(2012) Gwendolyn Gramer et al.   MOLECULAR GENETICS AND METABOLISM

Differential modulation of the default mode network via serotonin-1A receptors

(2012) A. Hahn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tackling frontal lobe–related functions in PKU through functional brain imaging: a Stroop task in adult patients

(2011) Benedikt Sundermann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Functional network disruption in the degenerative dementias

(2011) Michela Pievani et al.   LANCET NEUROLOGY

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by1H-MR spectroscopy

(2009) R. Kreis et al.   MAGNETIC RESONANCE IN MEDICINE