Nicolas Dondaine
Strasbourg, 67000, France
Last Updated: 09/26/2026
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Found 9 publications
No role of intronic expansions in HSF1 for essential tremor in Europe.
Journal: Brain : a journal of neurology
Published: December 24, 2025
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Journal: Acta neuropathologica communications
Published: July 02, 2021
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Journal: Journal of neurology
Published: November 16, 2020
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.
Journal: Journal of neuromuscular diseases
Published: November 06, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Journal: Acta neuropathologica
Published: May 09, 2017
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Journal: Acta neuropathologica
Published: March 30, 2017
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Journal: Acta neuropathologica
Published: October 15, 2016
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Journal: Brain : a journal of neurology
Published: September 28, 2014
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Journal: Human mutation
Published: November 13, 2011
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Last Updated: 09/26/2026