Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

Katy Barwick, Jane Wright, Saeed Al-Turki, +11

The American Journal of Human Genetics

Neurological DisorderSynaptic TransmissionMolecular BiologyCellular NeurobiologySocial Sciences +18

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao, +49

Annals of Neurology

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin, +28

Brain

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Emma L. Baple, Reza Maroofian, Barry A. Chioza, +16

The American Journal of Human Genetics

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman, Heidi Cope, Zelha Nil, +43

The American Journal of Human Genetics

Developmental BiologyMolecular NeuroscienceHuman Developmental DelaysDevelopmental GeneticsGenetics +8

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Haicui Wang, Claire Salter, Osama Refai, +20

Brain

Developmental BiologySignal TransductionHigh-affinity Choline TransporterMendelian DisorderGenetics +11

Aromatic <scp>l</scp>-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies

Giada Rossignoli, Karolin Krämer, Eleonora Lugarà, +12

Brain

Neurochemical BiomarkersSynaptic SignalingSocial SciencesDopamine MetabolismNeurobiology Of Disease +17

Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathies

Claire Salter, Danique Beijer, Holly Hardy, +15

Neurology Genetics

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Jeremy M. Sullivan, William W. Motley, Janel O. Johnson, +18

Journal of Clinical Investigation

PathologyDisease Gene IdentificationPeripheral NervesDominant MutationsSignaling Pathway +14

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

Sharon Aharoni, Katy Barwick, Rachel Straussberg, +7

BMC Medical Genetics