Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

Lois M. Mulligan, John B. Kwok, Catherine S. Healey, +11

Nature

Endocrine OncologyGerm-line MutationsDevelopmental BiologySomatic VariantOncogenic Agent +5

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti, +14

The American Journal of Human Genetics

Neurodegenerative DiseasesMendelian DisorderGenetic DisorderExome SequencingGenetics +13

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

Susanna Ranta, Yonghui Zhang, Barbara Ross, +14

Nature Genetics

Neuronal Ceroid LipofuscinosesMolecular NeuroscienceEpendymaHuman EpmrMnd Mutant Mice +5

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová, +14

The American Journal of Human Genetics

Linkage MappingNeurogenomicsGeneticsPathologyNeurochemical Biomarkers +19

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

José Brás, Alain Verloès, Susanne A. Schneider, +2

Human Molecular Genetics

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

Ruth Williams, Sara Mole

Neurology

Neuronal Ceroid LipofuscinosesNeuro-oncologyYoung PeopleNeuroanatomyPathology +12

Spectrum of Mutations in the Batten Disease Gene, CLN3

Patricia B. Munroe, Hannah M. Mitchison, Angela O'Rawe, +8

The American Journal of Human Genetics

Batten Disease GeneMedicineGeneticsGenetic DisorderMolecular Genetics +4

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, +3

The American Journal of Human Genetics

Molecular NeuroscienceDevelopmental BiologyEpendymaPathologyCraniofacial Development +4

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6

Mallorie Poët, Uwe Kornak, Michaela Schweizer, +10

Proceedings of the National Academy of Sciences

Molecular BiologyCytoskeletonNeuronal Chloride TransportCellular PhysiologyEndocytic Pathway +14

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Todor Arsov, Katherine R. Smith, John A. Damiano, +19

The American Journal of Human Genetics

Neuro-oncologyKufs DiseasePathologyMajor Adult FormNeurology +5