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by Abarca-Gómez, Leandra and Abdeen, Ziad A and Hamid, Zargar Abdul and Abu-Rmeileh, Niveen M and Acosta-Cazares, Benjamin and Acuin, Cecilia and Adams, Robert J and Aekplakorn, Wichai and Afsana, Kaosar and Aguilar-Salinas, Carlos A and Agyemang, Charles and Ahmadvand, Alireza and Ahrens, Wolfgang and Ajlouni, Kamel and Akhtaeva, Nazgul and Al-Hazzaa, Hazzaa M and Al-Othman, Amani Rashed and Al-Raddadi, Rajaa and Al Buhairan, Fadia and Al Dhukair, Shahla and Ali, Mohamed M and Ali, Osman and Alkerwi, Ala'a and Alvarez-Pedrerol, Mar and Aly, Eman and Amarapurkar, Deepak N and Amouyel, Philippe and Amuzu, Antoinette and Andersen, Lars Bo and Anderssen, Sigmund A and Andrade, Dolores S and Ängquist, Lars H and Anjana, Ranjit Mohan and Aounallah-Skhiri, Hajer and Araújo, Joana and Ariansen, Inger and Aris, Tahir and Arlappa, Nimmathota and Arveiler, Dominique and Aryal, Krishna K and Aspelund, Thor and Assah, Felix K and Assunção, Maria Cecília F and Aung, May Soe and Avdicová, Mária and Azevedo, Ana and Azizi, Fereidoun and Babu, Bontha V and Bahijri, Suhad and Baker, Jennifer L and Balakrishna, Nagalla and Bamoshmoosh, Mohamed and Banach, Maciej and Bandosz, Piotr and Banegas, José R and Barbagallo, Carlo M and Barceló, Alberto and Barkat, Amina and Barros, Aluisio JD and Barros, Mauro VG and Bata, Iqbal and Batieha, Anwar M and Batista, Rosangela L and Batyrbek, Assembekov and Baur, Louise A and Beaglehole, Robert and Romdhane, Habiba Ben and Benedics, Judith and Benet, Mikhail and Bennett, James E and Bernabe-Ortiz, Antonio and Bernotiene, Gailute and Bettiol, Heloisa and Bhagyalaxmi, Aroor and Bharadwaj, Sumit and Bhargava, Santosh K and Bhatti, Zaid and Bhutta, Zulfiqar A and Bi, Hongsheng and Bi, Yufang and Biehl, Anna and Bikbov, Mukharram and Bista, Bihungum and Bjelica, Dusko J and Bjerregaard, Peter and Bjertness, Espen and Bjertness, Marius B and Björkelund, Cecilia and Blokstra, Anneke and Bo, Simona and Bobak, Martin and Boddy, Lynne M and Boehm, Bernhard O and Boeing, Heiner and Boggia, Jose G and Boissonnet, Carlos P and Bonaccio, Marialaura and Bongard, Vanina and Bovet, Pascal and Braeckevelt, Lien and ... and NCD Risk Factor Collaboration (NCD-RisC) and Högskolan Dalarna and Akademin Utbildning, hälsa och samhälle and Omvårdnad
The Lancet, ISSN 0140-6736, 12/2017, Volume 390, Issue 10113, pp. 2627 - 2642
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 05/2017, Volume 30, Issue 5, pp. 597 - 601
Journal Article
Human Mutation, ISSN 1059-7794, 12/2013, Volume 34, Issue 12, pp. 1632 - 1641
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 20 - 24
Okur‐Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by... 
CSNK2A1 | Okur‐Chung neurodevelopmental syndrome | pituitary gland duplication | Vertebrae | Magnetic resonance imaging | Pituitary | Olfactory bulb | Mutation | Neurodevelopmental disorders | Mental retardation
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 5, pp. 686 - 696
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2016, Volume 24, Issue 12, pp. 1730 - 1738
Journal Article
Human Mutation, ISSN 1059-7794, 06/2017, Volume 38, Issue 6, pp. 615 - 620
Journal Article
Journal Article
Movement Disorders, ISSN 0885-3185, 11/2017, Volume 32, Issue 11, pp. 1620 - 1630
ABSTRACT Background Pantothenate kinase‐associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The... 
pantothenate kinase‐associated neurodegeneration | clinical rating scale | neurodegeneration with brain iron accumulation | PKAN | dystonia parkinsonism | pantothenate kinase-associated neurodegeneration | STIMULATION | BRAIN IRON ACCUMULATION | RELIABILITY | CLINICAL NEUROLOGY | HALLERVORDEN-SPATZ-SYNDROME | MULTIPLE-SCLEROSIS | MUTATIONS | DEFERIPRONE | PARKINSONS-DISEASE | CHILDHOOD DYSTONIA | Humans | Middle Aged | Parkinsonian Disorders - diagnosis | Parkinsonian Disorders - etiology | Pantothenate Kinase-Associated Neurodegeneration - diagnosis | Young Adult | Ocular Motility Disorders - diagnosis | Adult | Cognitive Dysfunction - diagnosis | Dystonia - etiology | Mental Disorders - diagnosis | Child | Mental Disorders - etiology | Severity of Illness Index | Ocular Motility Disorders - etiology | Reproducibility of Results | Cross-Sectional Studies | Cognitive Dysfunction - etiology | Pantothenate Kinase-Associated Neurodegeneration - complications | Dystonia - diagnosis | Pilot Projects | Pantothenate Kinase-Associated Neurodegeneration - genetics | Adolescent | Aged | Disabled Persons | Medicine, Experimental | Medical research | Nervous system diseases | Parkinson's disease | Basal ganglia | Neurodegeneration | Cognitive ability | Central nervous system diseases | Skull | Dystonia | Children | Movement disorders | Pantothenate kinase
Journal Article