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Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 07/2019, Volume 14, Issue 1, pp. 168 - 9
BackgroundSanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from... 
MEDICINE, RESEARCH & EXPERIMENTAL | MUCOPOLYSACCHARIDOSIS TYPE IIIB | Caregiver | GENETICS & HEREDITY | Burden of disease | RELIABILITY | Sanfilippo syndrome | NATURAL-HISTORY | CARERS | Quality of life | OF-LIFE BATTERY | Caregivers | Psychological aspects | Medical personnel | Sleep disorders | Analysis | Practice | Research
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S113 - S113
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 118 - 123
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 12, pp. 1159 - 1169
Journal Article
Journal Article
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
Journal Article
Human Mutation, ISSN 1059-7794, 09/2015, Volume 36, Issue 9, pp. 831 - 835
ABSTRACT Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. JS is part of a group of... 
Talpid3 | sonic hedgehog | KIAA0586 | Joubert syndrome | ciliopathy | Ciliopathy | Sonic hedgehog | ENCODES | PROTEIN | GENETICS & HEREDITY | TALPID3 GENE | PRIMARY CILIUM | Proteins | Genomics | Genotype & phenotype | Neurological disorders | Mutation
Journal Article
Parkinsonism & related disorders, 12/2018
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies... 
Journal Article
Journal Article