Daniel Rochefort - Concepedia

Author

Daniel Rochefort

Also Known As

Annie Reynolds, Calwing Liao, D L Rochefort, D Rochefort, D.L. Rochefort, Daniel L. Rochefort, Daniel Rochefort, Rochefort, Daniel

Publications

4.9K

Citations

H-Index

102

Concepts

All Affiliations

McGill University Université de Montréal Montreal Neurological Institute and Hospital Montreal General Hospital Centre Hospitalier de l’Université de Montréal

About

Daniel Rochefort is an author at McGill University specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	32	4K
2	Social Sciences	7	7	1K
3	Natural Sciences	2	2	83
4	Engineering	1	1	14
5	Health Sciences	1	1	18

Daniel Rochefort

Publications

4.5K

Citations

H-Index

Page 1

	Year	Citations
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy Bernard Brais, Jean‐Pierre Bouchard, Ya‐Gang Xie, Nature Genetics Systems BiologyGenetic DisorderShort Gcg ExpansionsGeneticsProtein Genetics	1998	796
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo Edor Kabashi, Miranda L. Tradewell, Patrick A. Dion, Human Molecular Genetics Als-related MutationsMotor DysfunctionGeneticsMolecular BiologyZebrafish Embryos	2009	412
The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum Heidi Howard, David B. Mount, Daniel Rochefort, Nature Genetics K–cl Cotransporter Kcc3Synaptic TransmissionCorpus CallosumPeripheral NervesCellular Physiology	2002	277
Mutations in<i>SYNGAP1</i>Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency Martin H. Berryer, Fadi F. Hamdan, Laura L. Klitten, Human Mutation GeneticsPathologyDisease-causing Point MutationsDisease Gene IdentificationSynaptic Signaling	2012	270
De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, The American Journal of Human Genetics Neurodevelopmental DisordersGenetic DisorderGeneticsFragile X SpectrumLanguage Impairment	2010	233
KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 Jean‐Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, The American Journal of Human Genetics Synaptic PlasticityNeuromuscular JunctionMolecular NeuroscienceMolecular PhysiologySynaptic Transmission	2011	203
Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1 Ronald G. Lafrenière, Daniel Rochefort, Nathalie Chrétien, Nature Genetics Unstable InsertionDevelopmental BiologyFlanking RegionGenetic DisorderGenetics	1997	178
Mutations in <i>DCC</i> Cause Congenital Mirror Movements Myriam Srour, Jean‐Baptiste Rivière, Jessica M. T. Pham, Science Developmental AnomalySignal TransductionDevelopmental BiologyMirror MovementsGenetic Disorder	2010	173
C9orf72 repeat expansions are a rare genetic cause of parkinsonism Suzanne Lesage, Isabelle Le Ber, Christel Condroyer, Brain Motor DysfunctionCorticobasal DegenerationGeneticsPathologyMendelian Disorder	2013	159
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis Hannah Kaneb, Andrew W. Folkmann, Véronique Belzil, Human Molecular Genetics Neurodegenerative DiseasesAmyotrophic Lateral SclerosisDevelopmental BiologyMotor NeuronsGenetic Disorder	2014	128

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