These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
122 related articles for article (PubMed ID: 35182943)
1. CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period. Garel P; Lesca G; Ville D; Poulat AL; Chatron N; Sanlaville D; Des Portes V; Arzimanoglou A; Lion-François L Eur J Paediatr Neurol; 2022 Mar; 37():98-104. PubMed ID: 35182943 [TBL] [Abstract][Full Text] [Related]
2. Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. Low KJ; Stals K; Caswell R; Wakeling M; Clayton-Smith J; Donaldson A; Foulds N; Norman A; Splitt M; Urankar K; Vijayakumar K; Majumdar A; Study D; Ellard S; Smithson SF Eur J Hum Genet; 2018 Jun; 26(6):796-807. PubMed ID: 29511323 [TBL] [Abstract][Full Text] [Related]
4. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Mehta P; Küspert M; Bale T; Brownstein CA; Towne MC; De Girolami U; Shi J; Beggs AH; Darras BT; Wegner M; Piao X; Agrawal PB Muscle Nerve; 2017 May; 55(5):761-765. PubMed ID: 27668699 [TBL] [Abstract][Full Text] [Related]
5. Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. Vallat JM; Nizon M; Magee A; Isidor B; Magy L; Péréon Y; Richard L; Ouvrier R; Cogné B; Devaux J; Zuchner S; Mathis S J Neuropathol Exp Neurol; 2016 Dec; 75(12):1155-1159. PubMed ID: 27818385 [TBL] [Abstract][Full Text] [Related]
6. Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes. Khan S; Umair M; Abbas S; Ali U; Zaman G; Ansar M; Wang R; Zhang X; Houlden H; Harlalka GV; Gul A J Gene Med; 2023 Oct; 25(10):e3513. PubMed ID: 37178061 [TBL] [Abstract][Full Text] [Related]
7. Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis. Conant A; Curiel J; Pizzino A; Sabetrasekh P; Murphy J; Bloom M; Evans SH; Helman G; Taft RJ; Simons C; Whitehead MT; Moore SA; Vanderver A J Child Neurol; 2018 Sep; 33(10):642-650. PubMed ID: 29882456 [TBL] [Abstract][Full Text] [Related]
8. A Letko A; Minor KM; Friedenberg SG; Shelton GD; Salvador JP; Mandigers PJJ; Leegwater PAJ; Winkler PA; Petersen-Jones SM; Stanley BJ; Ekenstedt KJ; Johnson GS; Hansen L; Jagannathan V; Mickelson JR; Drögemüller C Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261176 [TBL] [Abstract][Full Text] [Related]
10. Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. Lakhani S; Doan R; Almureikhi M; Partlow JN; Al Saffar M; Elsaid MF; Alaaraj N; James Barkovich A; Walsh CA; Ben-Omran T Eur J Med Genet; 2017 May; 60(5):245-249. PubMed ID: 28254648 [TBL] [Abstract][Full Text] [Related]
11. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. Darras N; Ha TK; Rego S; Martin PM; Barroso E; Slavotinek AM; Cilio MR Am J Med Genet A; 2019 Nov; 179(11):2190-2195. PubMed ID: 31465153 [TBL] [Abstract][Full Text] [Related]
12. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Reinson K; Õiglane-Shlik E; Talvik I; Vaher U; Õunapuu A; Ennok M; Teek R; Pajusalu S; Murumets Ü; Tomberg T; Puusepp S; Piirsoo A; Reimand T; Õunap K Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579 [TBL] [Abstract][Full Text] [Related]
17. Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. Rumping L; Büttner B; Maier O; Rehmann H; Lequin M; Schlump JU; Schmitt B; Schiebergen-Bronkhorst B; Prinsen HCMT; Losa M; Fingerhut R; Lemke JR; Zwartkruis FJT; Houwen RHJ; Jans JJM; Verhoeven-Duif NM; van Hasselt PM; Jamra R JAMA Neurol; 2019 Mar; 76(3):342-350. PubMed ID: 30575854 [TBL] [Abstract][Full Text] [Related]
18. Mutations of CNTNAP1 led to defects in neuronal development. Li W; Yang L; Tang C; Liu K; Lu Y; Wang H; Yan K; Qiu Z; Zhou W JCI Insight; 2020 Nov; 5(21):. PubMed ID: 33148880 [TBL] [Abstract][Full Text] [Related]
19. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Ohba C; Kato M; Takahashi S; Lerman-Sagie T; Lev D; Terashima H; Kubota M; Kawawaki H; Matsufuji M; Kojima Y; Tateno A; Goldberg-Stern H; Straussberg R; Marom D; Leshinsky-Silver E; Nakashima M; Nishiyama K; Tsurusaki Y; Miyake N; Tanaka F; Matsumoto N; Saitsu H Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894 [TBL] [Abstract][Full Text] [Related]
20. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Hamilton EM; Polder E; Vanderver A; Naidu S; Schiffmann R; Fisher K; Raguž AB; Blumkin L; ; van Berkel CG; Waisfisz Q; Simons C; Taft RJ; Abbink TE; Wolf NI; van der Knaap MS Brain; 2014 Jul; 137(Pt 7):1921-30. PubMed ID: 24785942 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]