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Fanny Mochel

Showing results (51-60 of 172) with videos related to

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Biochimica Et Biophysica Acta|July 20, 2010
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseasesFanny Mochel, Nadège Boildieu, Julie Barritault, et al.
Gene|December 26, 2012
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body diseaseLinda Dainese, Marie-Lorraine Monin, Sophie Demeret, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|August 16, 2019
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal TwinsEnrica Marchionni, Aurélie Méneret, Boris Keren, et al.
NMR in Biomedicine|January 10, 2018
Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopyIsaac M Adanyeguh, Marie-Lorraine Monin, Daisy Rinaldi, et al.
Molecular Genetics and Metabolism|March 23, 2005
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapyFanny Mochel, Pascale DeLonlay, Guy Touati, et al.
Neurology. Genetics|June 15, 2026
Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i>-Related DisorderXavier Ayrignac, Cecilia Marelli, Sylvain Lehmann, et al.
Neuroimage. Clinical|June 21, 2018
Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizesIsaac M Adanyeguh, Vincent Perlbarg, Pierre-Gilles Henry, et al.
Pediatrics|July 5, 2005
Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxyIrina Giurgea, Tim Ulinski, Guy Touati, et al.
The Journal of Biological Chemistry|November 30, 2011
Early alterations of brain cellular energy homeostasis in Huntington disease modelsFanny Mochel, Brandon Durant, Xingli Meng, et al.
Journal of Neurology|February 23, 2026
EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseasesMaria Damiano, Virginie Lambrecq, Vi-Huong Nguyen-Michel, et al.
Pageof 18

Showing results (51-60 of 172) with videos related to

Sort By:
Pageof 18
Biochimica Et Biophysica Acta|July 20, 2010
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseasesFanny Mochel, Nadège Boildieu, Julie Barritault, et al.
Gene|December 26, 2012
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body diseaseLinda Dainese, Marie-Lorraine Monin, Sophie Demeret, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|August 16, 2019
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal TwinsEnrica Marchionni, Aurélie Méneret, Boris Keren, et al.
NMR in Biomedicine|January 10, 2018
Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopyIsaac M Adanyeguh, Marie-Lorraine Monin, Daisy Rinaldi, et al.
Molecular Genetics and Metabolism|March 23, 2005
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapyFanny Mochel, Pascale DeLonlay, Guy Touati, et al.
Neurology. Genetics|June 15, 2026
Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i>-Related DisorderXavier Ayrignac, Cecilia Marelli, Sylvain Lehmann, et al.
Neuroimage. Clinical|June 21, 2018
Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizesIsaac M Adanyeguh, Vincent Perlbarg, Pierre-Gilles Henry, et al.
Pediatrics|July 5, 2005
Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxyIrina Giurgea, Tim Ulinski, Guy Touati, et al.
The Journal of Biological Chemistry|November 30, 2011
Early alterations of brain cellular energy homeostasis in Huntington disease modelsFanny Mochel, Brandon Durant, Xingli Meng, et al.
Journal of Neurology|February 23, 2026
EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseasesMaria Damiano, Virginie Lambrecq, Vi-Huong Nguyen-Michel, et al.
Pageof 18