Daniel Hantai

Inserm U 1127, CNRS UMR 7225, 47-83 Boulevard De L'Hôpital
Paris, 75013, France

Last Updated: 09/26/2026

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Found 13 publications

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Journal: Journal of neurology

Published: May 17, 2017

Atypical nuclear abnormalities in a patient with Brody disease.

Atypical nuclear abnormalities in a patient with Brody disease.

Journal: Neuromuscular disorders : NMD

Published: March 10, 2015

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Journal: Annals of clinical and translational neurology

Published: December 31, 2014

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Journal: Brain : a journal of neurology

Published: June 22, 2014

Congenital myasthenic syndromes; French experience

Congenital myasthenic syndromes; French experience

Journal: Bulletin de l'Academie nationale de medecine

Published: February 01, 2014

Congenital myasthenic syndromes: an update.

Congenital myasthenic syndromes: an update.

Journal: Current opinion in neurology

Published: September 03, 2013

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

Journal: Brain : a journal of neurology

Published: July 05, 2013

Congenital myasthenic syndromes.

Congenital myasthenic syndromes.

Journal: Handbook of clinical neurology

Published: April 30, 2013

Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience

Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience

Journal: Revue neurologique

Published: March 05, 2013

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.

Journal: Neuromuscular disorders : NMD

Published: January 28, 2013

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Journal: American journal of human genetics

Published: September 11, 2012

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

Journal: PloS one

Published: May 14, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026