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| X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus P Saugier-Veber, A Munnich, D Bonneau, JM Rozet, M Le Merrer, R Gil, ... Nature genetics 6 (3), 257-262, 1994 | 434 | 1994 |
| Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation M Kato, S Das, K Petras, K Kitamura, K Morohashi, DN Abuelo, M Barr, ... Human mutation 23 (2), 147-159, 2004 | 362 | 2004 |
| Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism C Dumanchin, A Camuzat, D Campion, P Verpillat, D Hannequin, ... Human molecular genetics 7 (11), 1825-1829, 1998 | 308 | 1998 |
| Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ... The American Journal of Human Genetics 106 (3), 356-370, 2020 | 280 | 2020 |
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| MEF2C haploinsufficiency caused by either microdeletion of the 5q14. 3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and … N Le Meur, M Holder-Espinasse, S Jaillard, A Goldenberg, S Joriot, ... Journal of medical genetics 47 (1), 22-29, 2010 | 250 | 2010 |
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| X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings D Bonneau, A Toutain, A Laquerriere, S Marret, P Saugier‐Veber, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 186 | 2002 |
| Refined characterization of the expression and stability of the SMN gene products J Vitte, C Fassier, FD Tiziano, C Dalard, S Soave, N Roblot, C Brahe, ... The American journal of pathology 171 (4), 1269-1280, 2007 | 140 | 2007 |
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| Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases H Adle-Biassette, P Saugier-Veber, C Fallet-Bianco, AL Delezoide, ... Acta neuropathologica 126, 427-442, 2013 | 127 | 2013 |
| Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects A Laquérriere, J Maluenda, A Camus, L Fontenas, K Dieterich, F Nolent, ... Human molecular genetics 23 (9), 2279-2289, 2014 | 123 | 2014 |
| Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe CL Bladen, R Thompson, JM Jackson, C Garland, C Wegel, A Ambrosini, ... Journal of neurology 261, 152-163, 2014 | 120 | 2014 |
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| Structure of the human progesterone receptor gene M Misrahi, PY Venencie, P Saugier-Veber, S Sar, P Dessen, E Milgrom Biochimica et Biophysica Acta (BBA)-Gene Structure and Expression 1216 (2 …, 1993 | 110 | 1993 |
| Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations O Clermont, P Burlet, P Benit, D Chanterau, P Saugier‐Veber, A Munnich, ... Human mutation 24 (5), 417-427, 2004 | 98 | 2004 |
| Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 A Goldenberg, F Riccardi, A Tessier, R Pfundt, T Busa, P Cacciagli, ... American Journal of Medical Genetics Part A 170 (11), 2847-2859, 2016 | 87 | 2016 |
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