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1. Full Text Late-onset presentation of neurometabolic diseases: diagnostic flowchart revisited
by Goizet, Cyril
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 01/2021, Volume 92, Issue 1, pp. 2 - 2
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Biomarkers | Genetic disorders | Motor neurone disease | Metabolism | Vitamin B | Diagnostic tests | Index Medicus
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2. Full Text Charcot–Marie–Tooth diseases: an update and some new proposals for the classification
by Mathis, Stéphane and Goizet, Cyril and Tazir, Meriem and Magdelaine, Corinne and Lia, Anne-Sophie and Magy, Laurent and Vallat, Jean-Michel
Journal of medical genetics, ISSN 0022-2593, 10/2015, Volume 52, Issue 10, pp. 681 - 690
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Expression | Genetic Testing | Charcot-Marie-Tooth Disease - classification | Humans | Neurons - metabolism | Retrospective Studies | Schwann Cells - metabolism | Charcot-Marie-Tooth Disease - diagnosis | Charcot-Marie-Tooth Disease - genetics | Genetic aspects | Research | Gene mutations | Charcot-Marie-Tooth disease | Risk factors | Index Medicus
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3. Full Text Zebrafish models of human motor neuron diseases: Advantages and limitations
by Babin, Patrick J and Goizet, Cyril and Raldúa, Demetrio
Progress in neurobiology, ISSN 0301-0082, 2014, Volume 118, pp. 36 - 58
Hereditary spastic paraplegia | Amyotrophic lateral sclerosis | Zebrafish | Motor neuron diseases | Upper and lower motor neurons | Spinal muscular atrophy | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Zebrafish - anatomy & histology | Brain - anatomy & histology | Brain - physiopathology | Humans | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | Spinal Cord - anatomy & histology | Zebrafish - genetics | Animals | Motor Neuron Disease - genetics | Zebrafish - physiology | Spinal Cord - physiopathology | Motor Neuron Disease - physiopathology | Disease Models, Animal | Neurons | Analysis | Index Medicus
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4. Full Text MRI of neurodegeneration with brain iron accumulation
by Lehericy, Stephane and Roze, Emmanuel and Goizet, Cyril and Mochel, Fanny
Current opinion in neurology, ISSN 1350-7540, 08/2020, Volume 33, Issue 4, pp. 462 - 473
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Hospitals | Magnetic resonance imaging | France | Welfare | Medical genetics | Index Medicus | Life Sciences
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5. Full Text Genetics of amyotrophic lateral sclerosis: A review
by Mathis, Stéphane and Goizet, Cyril and Soulages, Antoine and Vallat, Jean-Michel and Masson, Gwendal Le
Journal of the neurological sciences, ISSN 0022-510X, 04/2019, Volume 399, pp. 217 - 226
FUS | TDP-43 | Classification | Amyotrophic lateral sclerosis | Genetics | C9ORF72 | SOD1 | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Nervous system diseases | Anopheles | Genetic aspects | Genes | Medical genetics | Index Medicus
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6. Full Text Natural History of Adult Patients with GM2 Gangliosidosis
by Masingue, Marion and Dufour, Louis and Lenglet, Timothée and Saleille, Lisa and Goizet, Cyril and Ayrignac, Xavier and Ory‐Magne, Fabienne and Barth, Magali and Lamari, Foudil and Mandia, Daniele and Caillaud, Catherine and Nadjar, Yann
Annals of neurology, ISSN 0364-5134, 04/2020, Volume 87, Issue 4, pp. 609 - 617
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cerebellum | Neuroimaging | Gangliosidosis | Prognosis | Gait | Mental disorders | Atrophy | Psychosis | Tay-Sachs disease | Wheelchairs | Nerves | Ataxia | Evolution | Children | Limbs | Signs and symptoms | Phenotypes | Cerebellar ataxia | Muscles | Phenotype mixing | Neurological diseases | Mood | Magnetic resonance imaging | Correlation analysis | Mutation | Index Medicus
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7. Full Text Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
by Thiffault, Isabelle and Wolf, Nicole I and Forget, Diane and Guerrero, Kether and Tran, Luan T and Choquet, Karine and Lavallée-Adam, Mathieu and Poitras, Christian and Brais, Bernard and Yoon, Grace and Sztriha, Laszlo and Webster, Richard I and Timmann, Dagmar and van de Warrenburg, Bart P and Seeger, Jürgen and Zimmermann, Alíz and Máté, Aienn and Goizet, Cyril and Fung, Eva and van der Knaap, Marjo S and Fribourg, Sébastien and Vanderver, Adeline and Simons, Cas and Taft, Ryan J and Yates, John R and Coulombe, Benoit and Bernard, Geneviève
Nature communications, ISSN 2041-1723, 2015, Volume 6, Issue 1, pp. 7623 - 7623
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Homozygote | Genetic Predisposition to Disease | RNA Polymerase III - genetics | Humans | RNA Polymerase III - metabolism | DNA-Directed RNA Polymerases - genetics | Gene Expression Regulation, Enzymologic - physiology | Mutation | DNA-Directed RNA Polymerases - metabolism | Genes, Recessive | Hereditary Central Nervous System Demyelinating Diseases - genetics | Index Medicus
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