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Journal Article
by Purdue, M.P and Johansson, M and Zelenika, D and Toro, J.R and Scelo, G and Moore, L.E and Prokhortchouk, E and Wu, X and Kiemeney, L.A.L.M and Gaborieau, V and Jacobs, K.B and Chow, W.H and Zaridze, D and Matveev, V and Lubinski, J and Trubicka, J and Szeszenia-Dabrowska, N and Lissowska, J and Rudnai, P and Fabianova, E and Bucur, A and Bencko, V and Foretova, L and Janout, V and Boffetta, P and Colt, J.S and Davis, F.G and Schwartz, K.L and Banks, R.E and Selby, P.J and Harnden, P and Berg, C.D and Hsing, A.W and Grubb, R.L. 3rd and Boeing, H and Vineis, P and Clavel-Chapelon, F and Palli, D and Tumino, R and Krogh, V and Panico, S and Duell, E.J and Quiros, J.R and Sanchez, M.J and Navarro, C and Ardanaz, E and Dorronsoro, M and Khaw, K.T and Allen, N.E and Bueno-De-Mesquita, H.B and Peeters, P.H.M and Trichopoulos, D and Linseisen, J and Ljungberg, B and Overvad, K and Tjonneland, A and Romieu, I and Riboli, E and Mukeria, A and Shangina, O and Stevens, V.L and Thun, M.J and Diver, W.R and Gapstur, S.M and Pharoah, P.D and Easton, D.F and Albanes, D and Weinstein, S.J and Virtamo, J and Vatten, L and Hveem, K and Njolstad, I and Tell, G.S and Stoltenberg, C and Kumar, R and Koppova, K and Cussenot, O and Benhamou, S and Oosterwijk, E and Vermeulen, H.H.M and Aben, K.K.H and Marel, S.L. van der and Ye, Y and Wood, C.G and Pu, X and Mazur, A.M and Boulygina, E.S and Chekanov, N.N and Foglio, M and Lechner, D and Gut, I and Heath, S and Blanche, H and Hutchinson, A and Thomas, G and Wang, Z and Yeager, M and Fraumeni, J.F. Jr and Skryabin, K.G and McKay, J.D and Medicinska fakulteten and Urologi och andrologi and Institutionen för kirurgisk och perioperativ vetenskap and Umeå universitet
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, Issue 1, pp. 60 - 65
Journal Article
by McKay, J.D and Truong, T and Gaborieau, V and Chabrier, A and Chuang, S.C and Byrnes, G and Zaridze, D and Shangina, O and Szeszenia-Dabrowska, N and Lissowska, J and Rudnai, P and Fabianova, E and Bucur, A and Bencko, V and Holcatova, I and Janout, V and Foretova, L and Lagiou, P and Trichopoulos, D and Benhamou, S and Bouchardy, C and Ahrens, W and Merletti, F and Richiardi, L and Talamini, R and Barzan, L and Kjaerheim, K and Macfarlane, G.J and Macfarlane, T.V and Simonato, L and Canova, C and Agudo, A and Castellsague, X and Lowry, R and Conway, D.I and McKinney, P.A and Healy, C.M and Toner, M.E and Znaor, A and Curado, M.P and Koifman, S and Menezes, A and Wunsch-Filho, V and Neto, J.E and Garrote, L.F and Boccia, S and Cadoni, G and Arzani, D and Olshan, A.F and Weissler, M.C and Funkhouser, W.K and Luo, J and Lubinski, J and Trubicka, J and Lener, M and Oszutowska, D and Schwartz, S.M and Chen, C and Fish, S and Doody, D.R and Muscat, J.E and Lazarus, P and Gallagher, C.J and Chang, S.C and Zhang, Z.F and Wei, Q and Sturgis, E.M and Wang, L.E and Franceschi, S and Herrero, R and Kelsey, K.T and McClean, M.D and Marsit, C.J and Nelson, H.H and Romkes, M and Buch, S and Nukui, T and Zhong, S and Lacko, M and Manni, J.J and Peters, W.H.M and Hung, R.J and McLaughlin, J and Vatten, L and Njolstad, I and Goodman, G.E and Field, J.K and Liloglou, T and Vineis, P and Clavel-Chapelon, F and Palli, D and Tumino, R and Krogh, V and Panico, S and Gonzalez, C.A and Quiros, J.R and Martinez, C and Navarro, C and Ardanaz, E and Larrañaga, N and ... and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Enheten för biobanksforskning and Näringsforskning and Umeå universitet
Plos Genetics, ISSN 1553-7404, 2011, Volume 7, Issue 3, pp. e1001333 - e1001333
Journal Article
Neuro-Oncology, ISSN 1522-8517, 06/2018, Volume 20, Issue suppl_2, pp. i183 - i183
Abstract OBJECTIVES Subependymal giant cell astrocytoma (SEGA) is a most common brain tumor in patients with tuberous sclerosis complex caused by mutation in... 
Abstracts
Journal Article
Journal Article
by Maas, Roeltje R and Iwanicka‐Pronicka, Katarzyna and Kalkan Ucar, Sema and Alhaddad, Bader and AlSayed, Moeenaldeen and Al‐Owain, Mohammed A and Al‐Zaidan, Hamad I and Balasubramaniam, Shanti and Barić, Ivo and Bubshait, Dalal K and Burlina, Alberto and Christodoulou, John and Chung, Wendy K and Colombo, Roberto and Darin, Niklas and Freisinger, Peter and Garcia Silva, Maria Teresa and Grunewald, Stephanie and Haack, Tobias B and van Hasselt, Peter M and Hikmat, Omar and Hörster, Friederike and Isohanni, Pirjo and Ramzan, Khushnooda and Kovacs‐Nagy, Reka and Krumina, Zita and Martin‐Hernandez, Elena and Mayr, Johannes A and McClean, Patricia and De Meirleir, Linda and Naess, Karin and Ngu, Lock H and Pajdowska, Magdalena and Rahman, Shamima and Riordan, Gillian and Riley, Lisa and Roeben, Benjamin and Rutsch, Frank and Santer, Rene and Schiff, Manuel and Seders, Martine and Sequeira, Silvia and Sperl, Wolfgang and Staufner, Christian and Synofzik, Matthis and Taylor, Robert W and Trubicka, Joanna and Tsiakas, Konstantinos and Unal, Ozlem and Wassmer, Evangeline and Wedatilake, Yehani and Wolff, Toni and Prokisch, Holger and Morava, Eva and Pronicka, Ewa and Wevers, Ron A and de Brouwer, Arjan P and Wortmann, Saskia B and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Annals of Neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 1004 - 1015
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants... 
ENCEPHALOPATHY | MEGDEL SYNDROME | MANAGEMENT | GENE | BIOSYNTHESIS | PHENOTYPE | MITOCHONDRIAL DYSFUNCTION | PHOSPHOLIPIDS | 3-METHYLGLUTACONIC ACIDURIA | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | Dystonia - therapy | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Dystonia - genetics | Young Adult | Adult | Female | Carboxylic Ester Hydrolases - genetics | Deaf-Blind Disorders - therapy | Child | Infant, Newborn | Optic Atrophy - genetics | Amino Acid Sequence | Intellectual Disability - diagnostic imaging | Deaf-Blind Disorders - diagnostic imaging | Mutation - genetics | Disease Progression | Intellectual Disability - therapy | Optic Atrophy - therapy | Adolescent | Deaf-Blind Disorders - genetics | Dystonia - diagnostic imaging | Optic Atrophy - diagnostic imaging | Cohort Studies | Neonates | Cochlear implants | Deafness | Basal ganglia | Liver diseases | Liver | Aciduria | Spasticity | Hypoglycemia | Ganglia | Hearing loss | Hypotonia | Magnetic resonance imaging | Encephalopathy | Implants | Cochlea | Hearing aids | Leigh-like syndrome | Dystonia | Mutation | Auditory defects | Saliva | Age | lactic acid | epilepsy | 3 methylglutaconic aciduria dystonia deafness hepatopathy encephalopathy Leigh like syndrome | basal ganglion | nuclear magnetic resonance imaging | Carboxylic Ester Hydrolases | major clinical study | hearing impairment | young adult | infant | muscle biopsy | aciduria | dyskinesia | 3 methylglutaconic acid | liver failure | putamen | lactate blood level | Optic Atrophy | female | optic nerve atrophy | tongue disease | clinical trial | Neurologi | neuroradiology | liver disease | gene | preschool child | survival | diagnostic imaging | intelligence | neuroimaging | Neurology | mutation | speech development | adolescent | multicenter study | perception deafness | adult | serac1 gene | Deaf-Blind Disorders | male | child | deafblindness | Leigh disease | cohort analysis | Article | hypersalivation | communication skill | SERAC1 protein | genetics | amino acid sequence | walking | hypoglycemia | visual impairment | priority journal | human | Intellectual Disability | phenotype | disease exacerbation | differential diagnosis | human tissue | disease course | gene mutation | carboxylesterase | lactic acidosis | Preschool | brain disease | newborn | intellectual impairment | muscle hypotonia | prognosis | clinical feature | genetic variability | liver dysfunction | dystonia | newborn disease | spasticity | incidence
Journal Article
Neuro-Oncology, ISSN 1522-8517, 06/2018, Volume 20, Issue suppl_2, pp. i182 - i183
Abstract OBJECTIVES The detection of the clinically important genetic markers, including mosaic mutations, is challenging but essential for precise clinical... 
Abstracts
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2017, Volume 40, Issue 6, pp. 853 - 860
Journal Article
Journal of Neuro-Oncology, ISSN 0167-594X, 5/2015, Volume 123, Issue 1, pp. 65 - 73
Journal Article
Journal Article
Journal Article