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JIMD Reports
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March 13, 2015
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials
Michel Mazzuca, Marie-Anne Maubert, Léna Damaj, et al.
NPJ Parkinson'S Disease
|
October 17, 2025
Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families
Guillaume Cogan, Christelle Tesson, Lisa Welment, et al.
Archives of Neurology
|
January 12, 2011
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study
Julie Azoulay-Zyss, Emmanuel Roze, Marie-Laure Welter, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
March 23, 2021
SOD1-related ALS with anticipation in a large family from Martinique
Anna-Gaelle Giguet-Valard, Rémi Bellance, Séverine Jeannin, et al.
Neurology. Genetics
|
December 22, 2017
Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics
Mathieu Barbier, Agnès Camuzat, Marion Houot, et al.
Journal of Alzheimer'S Disease : JAD
|
June 16, 2012
Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S
Vincent Deramecourt, Florence Lebert, Claude-Alain Maurage, et al.
JAMA Neurology
|
December 18, 2013
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes
Paola Caroppo, Isabelle Le Ber, Fabienne Clot, et al.
Neurobiology of Aging
|
July 3, 2019
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency
Dario Saracino, Leila Sellami, Fabienne Clot, et al.
Neurobiology of Aging
|
October 18, 2015
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
Isabelle Le Ber, Anne De Septenville, Stéphanie Millecamps, et al.
Neurogenetics
|
January 29, 2014
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration
Fabienne Clot, Anne Rovelet-Lecrux, Foudil Lamari, et al.
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Search research articles
Search
Showing results (11-20 of 40) with videos related to
Sort By:
Page
of 4
JIMD Reports
|
March 13, 2015
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials
Michel Mazzuca, Marie-Anne Maubert, Léna Damaj, et al.
NPJ Parkinson'S Disease
|
October 17, 2025
Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families
Guillaume Cogan, Christelle Tesson, Lisa Welment, et al.
Archives of Neurology
|
January 12, 2011
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study
Julie Azoulay-Zyss, Emmanuel Roze, Marie-Laure Welter, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
March 23, 2021
SOD1-related ALS with anticipation in a large family from Martinique
Anna-Gaelle Giguet-Valard, Rémi Bellance, Séverine Jeannin, et al.
Neurology. Genetics
|
December 22, 2017
Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics
Mathieu Barbier, Agnès Camuzat, Marion Houot, et al.
Journal of Alzheimer'S Disease : JAD
|
June 16, 2012
Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S
Vincent Deramecourt, Florence Lebert, Claude-Alain Maurage, et al.
JAMA Neurology
|
December 18, 2013
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes
Paola Caroppo, Isabelle Le Ber, Fabienne Clot, et al.
Neurobiology of Aging
|
July 3, 2019
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency
Dario Saracino, Leila Sellami, Fabienne Clot, et al.
Neurobiology of Aging
|
October 18, 2015
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
Isabelle Le Ber, Anne De Septenville, Stéphanie Millecamps, et al.
Neurogenetics
|
January 29, 2014
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration
Fabienne Clot, Anne Rovelet-Lecrux, Foudil Lamari, et al.
Page
of 4