Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar, +115

The American Journal of Human Genetics

CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype +6

Congenital muscular dystrophies with defective glycosylation of dystroglycan

Eugenio Mercuri, Sonia Messina, Claudio Bruno, +32

Neurology

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

Jeremy M. Baskin, Xudong Wu, Romain Christiano, +14

Nature Cell Biology

Protein FunctionSignal TransductionP SynthesisBiochemistryPlasma Membrane +13

Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors

Raffaele Manni, Lucia Politini, Lino Nobili, +6

Clinical Neurophysiology

Clinical-electrophysiological FeaturesUnderlying FactorsPrader Willi SyndromeAnesthesiology

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Barbara Tappino, Roberta Biancheri, Matthew Mort, +10

Human Mutation

Molecular Diagnostic TechniquesSomatic VariantMendelian DisorderGenetic DisorderMedicine +12

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Roberta Biancheri, Antonio Falace, Alessandra Tessa, +10

Biochemical and Biophysical Research Communications

Rare DiseasesMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +7

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

Federico Zara, Roberta Biancheri, Claudio Bruno, +15

Nature Genetics

Congenital CataractOcular DiseaseOphthalmologyBiochemistryPathology +4

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

Pasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, +27

Epilepsia

Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.

Andrea Rossi, Roberta Biancheri, Claudio Bruno, +4

PubMed

The genotypic and phenotypic spectrum of PIGA deficiency

Maja Tarailo‐Graovac, Graham Sinclair, Sylvia Stöckler‐Ipsiroglu, +12

Orphanet Journal of Rare Diseases