205 related articles for article (PubMed ID: 27773428)
1. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Jerber J; Zaki MS; Al-Aama JY; Rosti RO; Ben-Omran T; Dikoglu E; Silhavy JL; Caglar C; Musaev D; Albrecht B; Campbell KP; Willer T; Almuriekhi M; Çağlayan AO; Vajsar J; Bilgüvar K; Ogur G; Abou Jamra R; Günel M; Gleeson JG
Am J Hum Genet; 2016 Nov; 99(5):1181-1189. PubMed ID: 27773428
[TBL] [Abstract][Full Text] [Related]
2. Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Devisme L; Bouchet C; Gonzalès M; Alanio E; Bazin A; Bessières B; Bigi N; Blanchet P; Bonneau D; Bonnières M; Bucourt M; Carles D; Clarisse B; Delahaye S; Fallet-Bianco C; Figarella-Branger D; Gaillard D; Gasser B; Delezoide AL; Guimiot F; Joubert M; Laurent N; Laquerrière A; Liprandi A; Loget P; Marcorelles P; Martinovic J; Menez F; Patrier S; Pelluard F; Perez MJ; Rouleau C; Triau S; Attié-Bitach T; Vuillaumier-Barrot S; Seta N; Encha-Razavi F
Brain; 2012 Feb; 135(Pt 2):469-82. PubMed ID: 22323514
[TBL] [Abstract][Full Text] [Related]
3. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Vuillaumier-Barrot S; Bouchet-Séraphin C; Chelbi M; Devisme L; Quentin S; Gazal S; Laquerrière A; Fallet-Bianco C; Loget P; Odent S; Carles D; Bazin A; Aziza J; Clemenson A; Guimiot F; Bonnière M; Monnot S; Bole-Feysot C; Bernard JP; Loeuillet L; Gonzales M; Socha K; Grandchamp B; Attié-Bitach T; Encha-Razavi F; Seta N
Am J Hum Genet; 2012 Dec; 91(6):1135-43. PubMed ID: 23217329
[TBL] [Abstract][Full Text] [Related]
4. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U; Uyanik G; Gross C; Walter MC; Bohring A; Cohen M; Oehl-Jaschkowitz B; Bird LM; Shamdeen GM; Bogdahn U; Schuierer G; Topaloglu H; Aigner L; Lochmüller H; Winkler J
Neurogenetics; 2007 Nov; 8(4):279-88. PubMed ID: 17906881
[TBL] [Abstract][Full Text] [Related]
5. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Radmanesh F; Caglayan AO; Silhavy JL; Yilmaz C; Cantagrel V; Omar T; Rosti B; Kaymakcalan H; Gabriel S; Li M; Sestan N; Bilguvar K; Dobyns WB; Zaki MS; Gunel M; Gleeson JG
Am J Hum Genet; 2013 Mar; 92(3):468-74. PubMed ID: 23472759
[TBL] [Abstract][Full Text] [Related]
6. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N; Poirier K; Boddaert N; Fallet-Bianco C; Specchio N; Bertini E; Caglayan O; Lascelles K; Elie C; Rambaud J; Baulac M; An I; Dias P; des Portes V; Moutard ML; Soufflet C; El Maleh M; Beldjord C; Villard L; Chelly J
Brain; 2010 Nov; 133(11):3194-209. PubMed ID: 20929962
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Farhan SMK; Nixon KCJ; Everest M; Edwards TN; Long S; Segal D; Knip MJ; Arts HH; Chakrabarti R; Wang J; Robinson JF; Lee D; Mirsattari SM; Rupar CA; Siu VM; ; Poulter MO; Hegele RA; Kramer JM
Hum Mol Genet; 2017 Nov; 26(21):4278-4289. PubMed ID: 28973161
[TBL] [Abstract][Full Text] [Related]
8. Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins.
Nguyen H; Ostendorf AP; Satz JS; Westra S; Ross-Barta SE; Campbell KP; Moore SA
Acta Neuropathol Commun; 2013 Sep; 1():58. PubMed ID: 24252195
[TBL] [Abstract][Full Text] [Related]
9. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Clement E; Mercuri E; Godfrey C; Smith J; Robb S; Kinali M; Straub V; Bushby K; Manzur A; Talim B; Cowan F; Quinlivan R; Klein A; Longman C; McWilliam R; Topaloglu H; Mein R; Abbs S; North K; Barkovich AJ; Rutherford M; Muntoni F
Ann Neurol; 2008 Nov; 64(5):573-82. PubMed ID: 19067344
[TBL] [Abstract][Full Text] [Related]
10. Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation.
Graham JB; Sunryd JC; Mathavan K; Weir E; Larsen ISB; Halim A; Clausen H; Cousin H; Alfandari D; Hebert DN
Mol Biol Cell; 2020 Feb; 31(3):167-183. PubMed ID: 31851597
[TBL] [Abstract][Full Text] [Related]
11. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC; Gleason D; Chang BS; Hill RS; Barry BJ; Partlow JN; Poduri A; Currier S; Galvin-Parton P; Shapiro LR; Schmidt K; Davis JG; Basel-Vanagaite L; Seidahmed MZ; Salih MA; Dobyns WB; Walsh CA
Hum Mutat; 2008 Nov; 29(11):E231-41. PubMed ID: 18752264
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
Yoshioka M
Brain Dev; 2009 Jun; 31(6):419-22. PubMed ID: 18834683
[TBL] [Abstract][Full Text] [Related]
13. Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain.
Satz JS; Ostendorf AP; Hou S; Turner A; Kusano H; Lee JC; Turk R; Nguyen H; Ross-Barta SE; Westra S; Hoshi T; Moore SA; Campbell KP
J Neurosci; 2010 Oct; 30(43):14560-72. PubMed ID: 20980614
[TBL] [Abstract][Full Text] [Related]
14. Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.
Fiorillo C; Moro F; Astrea G; Morales MA; Baldacci J; Marchese M; Scapolan S; Bruno C; Battini R; Santorelli FM
Neuromuscul Disord; 2013 Dec; 23(12):1010-5. PubMed ID: 24144914
[TBL] [Abstract][Full Text] [Related]
15. Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.
Yoshioka M; Toda T; Kuroki S; Hamano K
J Child Neurol; 1999 Nov; 14(11):711-5. PubMed ID: 10593547
[TBL] [Abstract][Full Text] [Related]
16. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T; Rödl T; Topaloğlu H; Balci-Hayta B; Hinreiner S; Müller-Felber W; Schoser B; Mehraein Y; Hübner A; Zirn B; Hoopmann M; Reutter H; Mowat D; Schuierer G; Schara U; Hehr U; Kölbel H
Orphanet J Rare Dis; 2019 Jul; 14(1):179. PubMed ID: 31311558
[TBL] [Abstract][Full Text] [Related]
17. Glyc-O-genetics of Walker-Warburg syndrome.
van Reeuwijk J; Brunner HG; van Bokhoven H
Clin Genet; 2005 Apr; 67(4):281-9. PubMed ID: 15733261
[TBL] [Abstract][Full Text] [Related]
18. Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.
Talenti G; Robson C; Severino MS; Alves CA; Chitayat D; Dahmoush H; Smith L; Muntoni F; Blaser SI; D'Arco F
AJNR Am J Neuroradiol; 2021 Jan; 42(1):167-172. PubMed ID: 33122211
[TBL] [Abstract][Full Text] [Related]
19. Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation.
Fagiolari G; Cappellini A; Cagliani R; Prelle A; Lucchini V; Fortunato F; Locatelli F; Crugnola V; Comi GP; Bresolin N; Moggio M; Lamperti C
J Child Neurol; 2010 Mar; 25(3):312-20. PubMed ID: 19633331
[TBL] [Abstract][Full Text] [Related]
20. Fukutin and alpha-dystroglycanopathies.
Toda T; Chiyonobu T; Xiong H; Tachikawa M; Kobayashi K; Manya H; Takeda S; Taniguchi M; Kurahashi H; Endo T
Acta Myol; 2005 Oct; 24(2):60-3. PubMed ID: 16550916
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]