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DUFFOURD , Yannis

Last name: DUFFOURD

First name: Yannis

2016 (v1)

Publication

Metadata-only

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Bauché, Stéphanie O'Regan, Seana Azuma, Yoshiteru

The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and...

Uploaded on: March 27, 2023
2022 (v1)

Publication

Metadata-only

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

Vitobello, Antonio Mazel, Benoit Lelianova, Vera G

ADGRL1 (latrophilin 1), a well-characterized adhesion G protein-coupled receptor, has been implicated in synaptic development, maturation, and activity. However, the role of ADGRL1 in human disease has been elusive. Here, we describe ten individuals with variable neurodevelopmental features including developmental delay, intellectual...

Uploaded on: February 4, 2024