Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter, +41

Journal of Clinical Investigation

Myelin DevelopmentMyelin SheathNeurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological Disease +13

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Paige Martin, Yu Kigoshi-Tansho, Roger B. Sher, +25

Nature Communications

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Daniel P. S. Osborn, Heather L. Pond, Neda Mazaheri, +21

The American Journal of Human Genetics

Inpp5k CauseRare DiseasesMendelian DisorderGenetic DisorderGenetics +5

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Caroline Dias, Jaya Punetha, Céline Zheng, +40

The American Journal of Human Genetics

Brain DevelopmentExome SequencingSynaptic TransmissionGeneticsDisease Gene Identification +15

Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration

Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky, +28

Neurology

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Daniel P. S. Osborn, Leila Emrahi, Joshua S. Clayton, +14

Genetics in Medicine

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, +28

Brain

GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationMitochondrial Myopathy +14

Neurologic Phenotypes Associated With Mutations in <i>RTN4IP1</i> (<i>OPA10</i>) in Children and Young Adults

Majida Charif, Alessia Nasca, Kyle Thompson, +39

JAMA Neurology

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy

Edward G. Jones, Neda Mazaheri, Reza Maroofian, +9

Scientific Reports

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, +94

Genetics in Medicine