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1. Full Text Treacher Collins syndrome: A clinical and molecular study based on a large series of patients
by Vincent, Marie and Geneviève, David and Ostertag, Agnès and Marlin, Sandrine and Lacombe, Didier and Martin-Coignard, Dominique and Coubes, Christine and David, Albert and Lyonnet, Stanislas and Vilain, Catheline and Dieux-Coeslier, Anne and Manouvrier, Sylvie and Isidor, Bertrand and Jacquemont, Marie-Line and Julia, Sophie and Layet, Valérie and Naudion, Sophie and Odent, Sylvie and Pasquier, Laurent and Pelras, Sybille and Philip, Nicole and Pierquin, Geneviève and Prieur, Fabienne and Aboussair, Nisrine and Attie-Bitach, Tania and Baujat, Geneviève and Blanchet, Patricia and Blanchet, Catherine and Dollfus, Hélène and Doray, Bérénice and Schaefer, Elise and Edery, Patrick and Giuliano, Fabienne and Goldenberg, Alice and Goizet, Cyril and Guichet, Agnès and Herlin, Christian and Lambert, Laetitia and Leheup, Bruno and Martinovic, Jelena and Mercier, Sandra and Mignot, Cyril and Moutard, Marie-Laure and Perez, Marie-José and Pinson, Lucile and Puechberty, Jacques and Willems, Marjolaine and Randrianaivo, Hanitra and Szaskon, Kateline and Toutain, Annick and Verloes, Alain and Vigneron, Jacqueline and Sanchez, Elodie and Sarda, Pierre and Laplanche, Jean-Louis and Collet, Corinne
Genetics in Medicine, ISSN 1098-3600, 01/2016, Volume 18, Issue 1, pp. 49 - 56
Purpose: Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of... 
Treacher Collins syndrome | phenotype-genotype correlations | POLR1D | Franceschetti syndrome | TCOF1 | DIAGNOSIS | RNA | TRANSCRIPTION | IDENTIFICATION | MANDIBULOFACIAL DYSOSTOSIS | HAPLOINSUFFICIENCY | PATHOGENESIS | GENETICS & HEREDITY | MUTATIONS | DELETIONS | TCOF1 GENE-PRODUCT | Amino Acid Sequence | Sequence Deletion | Microcephaly - genetics | Genetic Association Studies | Humans | Middle Aged | Molecular Sequence Data | Male | DNA-Directed RNA Polymerases - genetics | Phosphoproteins - genetics | Ribonucleoprotein, U5 Small Nuclear - genetics | Young Adult | Mandibulofacial Dysostosis - genetics | Mandibulofacial Dysostosis - diagnosis | Base Sequence | Adolescent | Adult | Female | Mutation | Nuclear Proteins - genetics | Child | Peptide Elongation Factors - genetics | Life Sciences
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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
BackgroundCharcot–Marie–Tooth (CMT) disease, the most frequent form of inherited neuropathy, is a genetically heterogeneous group of disorders of the... 
DEJERINE-SOTTAS-DISEASE | HEREDITARY PERIPHERAL NEUROPATHIES | GENETICS & HEREDITY | AXONAL NEUROPATHY | PERONEAL MUSCULAR-ATROPHY | SENSORY NEUROPATHY | INHERITED NEUROPATHIES | CONGENITAL HYPOMYELINATION NEUROPATHY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | MITOFUSIN 2 MUTATIONS | GDAP1 MUTATIONS | 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
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3. Full Text Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
by Legati, Andrea and Giovannini, Donatella and Nicolas, Gaël and López-Sánchez, Uriel and Quintáns, Beatriz and Oliveira, João R M and Sears, Renee L and Ramos, Eliana Marisa and Spiteri, Elizabeth and Sobrido, María-Jesús and Carracedo, Ángel and Castro-Fernández, Cristina and Cubizolle, Stéphanie and Fogel, Brent L and Goizet, Cyril and Jen, Joanna C and Kirdlarp, Suppachok and Lang, Anthony E and Miedzybrodzka, Zosia and Mitarnun, Witoon and Paucar, Martin and Paulson, Henry and Pariente, Jérémie and Richard, Anne-Claire and Salins, Naomi S and Simpson, Sheila A and Striano, Pasquale and Svenningsson, Per and Tison, François and Unni, Vivek K and Vanakker, Olivier and Wessels, Marja W and Wetchaphanphesat, Suppachok and Yang, Michele and Boller, Francois and Campion, Dominique and Hannequin, Didier and Sitbon, Marc and Geschwind, Daniel H and Battini, Jean-Luc and Coppola, Giovanni
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 579 - 581
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions... 
DOMAIN-CONTAINING PROTEINS | HOMEOSTASIS | TRANSPORT | CELL-SURFACE RECEPTOR | GENE | BASAL GANGLIA CALCIFICATION | GENETICS & HEREDITY | RETROVIRUS | MURINE LEUKEMIA VIRUSES | MICE | Calcinosis - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Middle Aged | Male | Neurodegenerative Diseases - genetics | Mutation, Missense | Receptors, Virus - genetics | Lod Score | DNA Mutational Analysis | Pedigree | HEK293 Cells | Female | Receptors, G-Protein-Coupled - genetics | Brain Diseases, Metabolic, Inborn - genetics | Development and progression | Nervous system diseases | Genetic aspects | Gene mutations | Health aspects | Flow cytometry | Stroke | Genealogy | Medical imaging | Womens health | Calcification | Ligands | Mutation | Calcium phosphates | Life Sciences | Human health and pathology | Neurons and Cognition | Neurobiology | Genetics | Endocrinology and metabolism | Human genetics
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4. 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, 07/2014, Volume 118, pp. 36 - 58
Motor neuron diseases (MNDs) are an etiologically heterogeneous group of disorders of neurodegenerative origin, which result in degeneration of lower (LMNs)... 
Hereditary spastic paraplegia | Zebrafish | Amyotrophic lateral sclerosis | Motor neuron diseases | Upper and lower motor neurons | Spinal muscular atrophy | VIALETTO-VAN LAERE | GOLDBERG-SHPRINTZEN SYNDROME | IDENTIFIED RETICULOSPINAL NEURONS | AMYOTROPHIC-LATERAL-SCLEROSIS | NEUROSCIENCES | TRIPLE-A SYNDROME | RESPIRATORY-DISTRESS TYPE-1 | SPINAL MUSCULAR-ATROPHY | CONGENITAL CONTRACTURE SYNDROME | PROGRESSIVE MYOCLONIC EPILEPSY | 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
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5. Full Text DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
by Bettencourt, Conceição and Hensman‐Moss, Davina and Flower, Michael and Wiethoff, Sarah and Brice, Alexis and Goizet, Cyril and Stevanin, Giovanni and Koutsis, Georgios and Karadima, Georgia and Panas, Marios and Yescas‐Gómez, Petra and García‐Velázquez, Lizbeth Esmeralda and Alonso‐Vilatela, María Elisa and Lima, Manuela and Raposo, Mafalda and Traynor, Bryan and Sweeney, Mary and Wood, Nicholas and Giunti, Paola and Durr, Alexandra and Holmans, Peter and Houlden, Henry and Tabrizi, Sarah J and Jones, Lesley and SPATAX Network
Annals of Neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 983 - 990
Objective: The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary... 
CAG REPEAT | SPINOCEREBELLAR ATAXIA | EXPANSION | EARLIER AGE | REPEAT INSTABILITY | HUNTINGTONS-DISEASE | NEUROSCIENCES | DAMAGE | GENOME | BRAIN | CLINICAL NEUROLOGY | Genome-Wide Association Study | Humans | Age of Onset | Huntington Disease - genetics | Polymorphism, Single Nucleotide - genetics | Trinucleotide Repeat Expansion - genetics | DNA Repair - genetics | Exodeoxyribonucleases - genetics | Mutation | Mismatch Repair Endonuclease PMS2 - genetics | Spinocerebellar Ataxias - genetics | Neurodegenerative diseases | Genes | Trinucleotide repeats | Genomes | Single-nucleotide polymorphism | Polyglutamine diseases | Huntington's disease | DNA repair | Diseases | Neurological diseases | Pathways | Spinocerebellar ataxia | Genetic engineering | Repair | Trinucleotide repeat diseases | Age | Deoxyribonucleic acid--DNA | Glutamine | Index Medicus | Life Sciences | Neurons and Cognition
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6. Full Text Reasons Charcot–Marie–Tooth disease due to mutations in the MME gene should not be named AR‐CMT2T
by Mathis, Stéphane and Goizet, Cyril and Tazir, Meriem and Magy, Laurent and Vallat, Jean‐Michel
Annals of Neurology, ISSN 0364-5134, 09/2016, Volume 80, Issue 3, pp. 477 - 477
NEUROSCIENCES | CLINICAL NEUROLOGY | Phenotype | Endrin - analogs & derivatives | Mutation | Humans | Charcot-Marie-Tooth Disease
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7. Full Text Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We... 
spastic paraparesis | type I interferon | bilateral striatal necrosis | interferon signature | Aicardi–Goutières syndrome | Interferon signature | Bilateral striatal necrosis | Spastic paraparesis | Type I interferon | Aicardi-Goutières syndrome | SYSTEMIC-LUPUS-ERYTHEMATOSUS | BASAL GANGLIA | ENCEPHALOPATHY | AICARDI-GOUTIERES-SYNDROME | INTERFERON-ALPHA | GENE | Aicardi-Goutieres syndrome | DNA EXONUCLEASE TREX1 | GENETICS & HEREDITY | CLASSIFICATION-SYSTEM | VASCULOPATHY | CALCIFICATIONS | Interferons - cerebrospinal fluid | Genetic Association Studies | Adenosine Deaminase - genetics | Humans | SAM Domain and HD Domain-Containing Protein 1 | Genotype | Monomeric GTP-Binding Proteins - genetics | Phosphoproteins - genetics | Pterins - cerebrospinal fluid | Interferon-Induced Helicase, IFIH1 | DEAD-box RNA Helicases - genetics | Phenotype | Interferons - blood | Autoimmune Diseases of the Nervous System - genetics | Nervous System Malformations - diagnosis | Exodeoxyribonucleases - genetics | Mutation | Nervous System Malformations - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Ribonuclease H - genetics | Glaucoma | Mortality | Skin diseases | Genetic aspects | Hypothyroidism | Biological response modifiers | Index Medicus
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8. 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, p. 7623
A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are... 
NUCLEAR IMPORT | CATALYTIC SUBUNIT | PATTERN-RECOGNITION | MULTIDISCIPLINARY SCIENCES | HUMAN TRANSCRIPTION MACHINERY | BRAIN-STEM | 4H SYNDROME | PROTEIN-INTERACTION NETWORK | GENOME | SPINAL-CORD INVOLVEMENT | AFFINITY-PURIFICATION | 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
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9. Full Text Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
by Tesson, Christelle and Nawara, Magdalena and Salih, Mustafa A.M and Rossignol, Rodrigue and Zaki, Maha S and Al Balwi, Mohammed and Schule, Rebecca and Mignot, Cyril and Obre, Emilie and Bouhouche, Ahmed and Santorelli, Filippo M and Durand, Christelle M and Oteyza, Andrés Caballero and El-Hachimi, Khalid H and Al Drees, Abdulmajeed and Bouslam, Naima and Lamari, Foudil and Elmalik, Salah A and Kabiraj, Mohammad M and Seidahmed, Mohammed Z and Esteves, Typhaine and Gaussen, Marion and Monin, Marie-Lorraine and Gyapay, Gabor and Lechner, Doris and Gonzalez, Michael and Depienne, Christel and Mochel, Fanny and Lavie, Julie and Schols, Ludger and Lacombe, Didier and Yahyaoui, Mohamed and Al Abdulkareem, Ibrahim and Zuchner, Stephan and Yamashita, Atsushi and Benomar, Ali and Goizet, Cyril and Durr, Alexandra and Gleeson, Joseph G and Darios, Frederic and Brice, Alexis and Stevanin, Giovanni
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1051 - 1064
Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease... 
CYTOCHROME-P450 | COMPLEX | PROTEIN | MOTOR-NEURON DEGENERATION | SEQUENCE ALTERATIONS | GENETICS & HEREDITY | PREFERRING PHOSPHOLIPASE A | IDENTIFICATION | THIN CORPUS-CALLOSUM | MISSENSE MUTATIONS | BRAIN | Spastic Paraplegia, Hereditary - genetics | Mitochondria - enzymology | Humans | Child, Preschool | Cytochrome P-450 Enzyme System - metabolism | Infant | Male | Gene Expression Profiling | Phospholipases - genetics | Young Adult | Cytochrome P450 Family 2 | Mitochondria - genetics | Adult | Female | Spastic Paraplegia, Hereditary - enzymology | Child | Fatty Acids - metabolism | Infant, Newborn | Genotype | Chromosome Mapping | Protein Transport | Phenotype | Adolescent | Phospholipases - metabolism | Cytochrome P-450 Enzyme System - genetics | Mutation | Causes of | Basal ganglia | Spherocytosis, Hereditary | Research | Gene mutations | Nervous system diseases | Neurosciences | Paralysis, Spastic | Genomics | Cytochrome P-450 | Physiological aspects | Heat shock proteins
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