Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

(2015) Christelle Tesson et al.   HUMAN GENETICS

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

(2014) Typhaine Esteves et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evolution of proline biosynthesis: enzymology, bioinformatics, genetics, and transcriptional regulation

(2014) Yosef Fichman et al.   BIOLOGICAL REVIEWS

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

(2014) David F.G.J. Wolthuis et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1

(2014) Björn Fischer et al.   MOLECULAR GENETICS AND METABOLISM

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Loss ofALDH18A1function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

(2014) Mark T. Handley et al.   Molecular Genetics & Genomic Medicine

DJ-1 cooperates with PYCR1 in cell protection against oxidative stress

(2013) Tatsuki Yasuda et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

(2013) Thatjana Gardeitchik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

(2013) Aikaterini Dimopoulou et al.   MOLECULAR GENETICS AND METABOLISM

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

(2012) Stefania Zampatti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

(2012) Stephan Kemp et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Suggested guidelines for the diagnosis and management of urea cycle disorders

(2012) Johannes Häberle et al.   Orphanet Journal of Rare Diseases

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)

(2011) David L. Skidmore et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

(2011) Diego Martinelli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

(2010) Inga Ebermann et al.   JOURNAL OF CLINICAL INVESTIGATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

(2009) Rebecca Schüle et al.   JOURNAL OF LIPID RESEARCH

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

(2008) Chien-an A. Hu et al.   AMINO ACIDS

Human Δ1-pyrroline-5-carboxylate synthase: function and regulation

(2008) C.-A. A. Hu et al.   AMINO ACIDS

A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

(2008) Louise S Bicknell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS