242 related articles for article (PubMed ID: 37517035)
1. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R; Kaiyrzhanov R; Cali E; Zamani M; Zaki MS; Ferla M; Tortora D; Sadeghian S; Saadi SM; Abdullah U; Karimiani EG; Efthymiou S; Yeşil G; Alavi S; Al Shamsi AM; Tajsharghi H; Abdel-Hamid MS; Saadi NW; Al Mutairi F; Alabdi L; Beetz C; Ali Z; Toosi MB; Rudnik-Schöneborn S; Babaei M; Isohanni P; Muhammad J; Khan S; Al Shalan M; Hickey SE; Marom D; Elhanan E; Kurian MA; Marafi D; Saberi A; Hamid M; Spaull R; Meng L; Lalani S; Maqbool S; Rahman F; Seeger J; Palculict TB; Lau T; Murphy D; Mencacci NE; Steindl K; Begemann A; Rauch A; Akbas S; Aslanger AD; Salpietro V; Yousaf H; Ben-Shachar S; Ejeskär K; Al Aqeel AI; High FA; Armstrong-Javors AE; Zahraei SM; Seifi T; Zeighami J; Shariati G; Sedaghat A; Asl SN; Shahrooei M; Zifarelli G; Burglen L; Ravelli C; Zschocke J; Schatz UA; Ghavideldarestani M; Kamel WA; Van Esch H; Hackenberg A; Taylor JC; Al-Gazali L; Bauer P; Gleeson JJ; Alkuraya FS; Lupski JR; Galehdari H; Azizimalamiri R; Chung WK; Baig SM; Houlden H; Severino M
Brain; 2023 Dec; 146(12):5031-5043. PubMed ID: 37517035
[TBL] [Abstract][Full Text] [Related]
2. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L; Isohanni P; Shao Y; Graham BH; Hickey SE; Brooks S; Suomalainen A; Joset P; Steindl K; Rauch A; Hackenberg A; High FA; Armstrong-Javors A; Mencacci NE; Gonzàlez-Latapi P; Kamel WA; Al-Hashel JY; Bustos BI; Hernandez AV; Krainc D; Lubbe SJ; Van Esch H; De Luca C; Ballon K; Ravelli C; Burglen L; Qebibo L; Calame DG; Mitani T; Marafi D; Pehlivan D; Saadi NW; Sahin Y; Maroofian R; Efthymiou S; Houlden H; Maqbool S; Rahman F; Gu S; Posey JE; Lupski JR; Hunter JV; Wangler MF; Carroll CJ; Yang Y
Ann Neurol; 2021 Apr; 89(4):828-833. PubMed ID: 33443317
[TBL] [Abstract][Full Text] [Related]
3. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R; Rad A; Lin SJ; Bertoli-Avella A; Kallemeijn WW; Godwin A; Zaki MS; Huang K; Lau T; Petree C; Efthymiou S; Karimiani EG; Hempel M; Normand EA; Rudnik-Schöneborn S; Schatz UA; Baggelaar MP; Ilyas M; Sultan T; Alvi JR; Ganieva M; Fowler B; Aanicai R; Tayfun GA; Al Saman A; Alswaid A; Amiri N; Asilova N; Shotelersuk V; Yeetong P; Azam M; Babaei M; Monajemi GB; Mohammadi P; Samie S; Banu SH; Pinto Basto J; Kortüm F; Bauer M; Bauer P; Beetz C; Garshasbi M; Issa AH; Eyaid W; Ahmed H; Hashemi N; Hassanpour K; Herman I; Ibrohimov S; Abdul-Majeed BA; Imdad M; Isrofilov M; Kaiyal Q; Khan S; Kirmse B; Koster J; Lourenço CM; Mitani T; Moldovan O; Murphy D; Najafi M; Pehlivan D; Rocha ME; Salpietro V; Schmidts M; Shalata A; Mahroum M; Talbeya JK; Taylor RW; Vazquez D; Vetro A; Waterham HR; Zaman M; Schrader TA; Chung WK; Guerrini R; Lupski JR; Gleeson J; Suri M; Jamshidi Y; Bhatia KP; Vona B; Schrader M; Severino M; Guille M; Tate EW; Varshney GK; Houlden H; Maroofian R
Brain; 2024 Apr; 147(4):1436-1456. PubMed ID: 37951597
[TBL] [Abstract][Full Text] [Related]
4. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009
[TBL] [Abstract][Full Text] [Related]
5. Biallelic variants in
Dentici ML; Alesi V; Quinodoz M; Robens B; Guerin A; Lebon S; Poduri A; Travaglini L; Graziola F; Afenjar A; Keren B; Licursi V; Capuano A; Dallapiccola B; Superti-Furga A; Novelli A
J Med Genet; 2022 Mar; 59(3):262-269. PubMed ID: 33397746
[TBL] [Abstract][Full Text] [Related]
6. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Zhang J; Liu X; Zhu G; Wan L; Liang Y; Li N; Huang M; Yang G
Brain Behav; 2024 May; 14(5):e3535. PubMed ID: 38773790
[TBL] [Abstract][Full Text] [Related]
7. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM; Spaull R; Salian S; Barwick K; Meyer E; Zhen J; Hirata H; Sheipouri D; Benkerroum H; Gorman KM; Papandreou A; Simpson MA; Hirano Y; Farabella I; Topf M; Grozeva D; Carss K; Smith M; Pall H; Lunt P; De Gressi S; Kamsteeg EJ; Haack TB; Carr L; Guerreiro R; Bras J; Maher ER; Scott RH; Vandenberg RJ; Raymond FL; Chong WK; Sudhakar S; Mankad K; Reith ME; Campeau PM; Harvey RJ; Kurian MA
Mov Disord; 2022 Oct; 37(10):2139-2146. PubMed ID: 35876425
[TBL] [Abstract][Full Text] [Related]
8. Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM; Harrer M; Smith L; Kelly M; Iqbal S; Maljevic S; Niturad CE; Vissers LELM; Poduri A; Yang E; Lal D; Lerche H; Møller RS; Olson HE;
Ann Neurol; 2021 Mar; 89(3):573-586. PubMed ID: 33325057
[TBL] [Abstract][Full Text] [Related]
9. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A; Lau T; Tajsharghi H; Karimiani EG; Kariminejad A; Efthymiou S; Zifarelli G; Sultan T; Toosi MB; Sedighzadeh S; Siu VM; Ortigoza-Escobar JD; AlShamsi AM; Ibrahim S; Al-Sannaa NA; Al-Hertani W; Sandra W; Tarnopolsky M; Alavi S; Li C; Day-Salvatore DL; Martínez-González MJ; Levandoski KM; Bedoukian E; Madan-Khetarpal S; Idleburg MJ; Menezes MJ; Siddharth A; Platzer K; Oppermann H; Smitka M; Collins F; Lek M; Shahrooei M; Ghavideldarestani M; Herman I; Rendu J; Faure J; Baker J; Bhambhani V; Calderwood L; Akhondian J; Imannezhad S; Mirzadeh HS; Hashemi N; Doosti M; Safi M; Ahangari N; Torbati PN; Abedini S; Salpietro V; Gulec EY; Eshaghian S; Ghazavi M; Pascher MT; Vogel M; Abicht A; Moutton S; Bruel AL; Rieubland C; Gallati S; Strom TM; Lochmüller H; Mohammadi MH; Alvi JR; Zackai EH; Keena BA; Skraban CM; Berger SI; Andrew EH; Rahimian E; Morrow MM; Wentzensen IM; Millan F; Henderson LB; Dafsari HS; Jungbluth H; Gomez-Ospina N; McRae A; Peter M; Veltra D; Marinakis NM; Sofocleous C; Ashrafzadeh F; Pehlivan D; Lemke JR; Melki J; Benezit A; Bauer P; Weis D; Lupski JR; Senderek J; Christodoulou J; Chung WK; Goodchild R; Offiah AC; Moreno-De-Luca A; Suri M; Ebrahimi-Fakhari D; Houlden H; Maroofian R
Brain; 2023 Aug; 146(8):3273-3288. PubMed ID: 36757831
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB; Levy AM; Mohammadi NA; Niceta M; Kaiyrzhanov R; Dentici ML; Al Alam C; Alesi V; Benoit V; Bhatia KP; Bierhals T; Boßelmann CM; Buratti J; Callewaert B; Ceulemans B; Charles P; De Wachter M; Dehghani M; D'haenens E; Doco-Fenzy M; Geßner M; Gobert C; Guliyeva U; Haack TB; Hammer TB; Heinrich T; Hempel M; Herget T; Hoffmann U; Horvath J; Houlden H; Keren B; Kresge C; Kumps C; Lederer D; Lermine A; Magrinelli F; Maroofian R; Vahidi Mehrjardi MY; Moudi M; Müller AJ; Oostra AJ; Pletcher BA; Ros-Pardo D; Samarasekera S; Tartaglia M; Van Schil K; Vogt J; Wassmer E; Winkelmann J; Zaki MS; Zech M; Lerche H; Radio FC; Gomez-Puertas P; Møller RS; Tümer Z
Clin Genet; 2022 Aug; 102(2):98-109. PubMed ID: 35616059
[TBL] [Abstract][Full Text] [Related]
12. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive
Rad A; Altunoglu U; Miller R; Maroofian R; James KN; Çağlayan AO; Najafi M; Stanley V; Boustany RM; Yeşil G; Sahebzamani A; Ercan-Sencicek G; Saeidi K; Wu K; Bauer P; Bakey Z; Gleeson JG; Hauser N; Gunel M; Kayserili H; Schmidts M
J Med Genet; 2019 May; 56(5):332-339. PubMed ID: 30487245
[TBL] [Abstract][Full Text] [Related]
13. A description of novel variants and review of phenotypic spectrum in
Briere LC; Walker MA; High FA; Cooper C; Rogers CA; Callahan CJ; Ishimura R; Ichimura Y; Caruso PA; Sharma N; Brokamp E; Koziura ME; Mohammad SS; Dale RC; Riley LG; ; Phillips JA; Komatsu M; Sweetser DA
Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 33811063
[TBL] [Abstract][Full Text] [Related]
14. Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
Barresi S; Dentici ML; Manzoni F; Bellacchio E; Agolini E; Pizzi S; Ciolfi A; Tarnopolsky M; Brady L; Garone G; Novelli A; Mei D; Guerrini R; Capuano A; Pantaleoni C; Tartaglia M
Pediatr Neurol; 2020 Mar; 104():40-45. PubMed ID: 31836334
[TBL] [Abstract][Full Text] [Related]
15. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S; Harms FL; Parrini E; Montomoli M; Mütze U; Helbig KL; Polster T; Albrecht B; Bernbeck U; van Binsbergen E; Biskup S; Burglen L; Denecke J; Heron B; Heyne HO; Hoffmann GF; Hornemann F; Matsushige T; Matsuura R; Kato M; Korenke GC; Kuechler A; Lämmer C; Merkenschlager A; Mignot C; Ruf S; Nakashima M; Saitsu H; Stamberger H; Pisano T; Tohyama J; Weckhuysen S; Werckx W; Wickert J; Mari F; Verbeek NE; Møller RS; Koeleman B; Matsumoto N; Dobyns WB; Battaglia D; Lemke JR; Kutsche K; Guerrini R
Brain; 2017 Sep; 140(9):2322-2336. PubMed ID: 29050398
[TBL] [Abstract][Full Text] [Related]
16. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H; Lewis SA; Bakhtiari S; Nordlie SH; Pagnozzi A; Magee H; Efthymiou S; Heim JA; Cornejo P; Zaki MS; Anwar N; Maqbool S; Rahman F; Neilson DE; Vemuri A; Jin SC; Yang XR; Heidari A; van Gassen K; Trimouille A; Thauvin-Robinet C; Liu J; Bruel AL; Tomoum H; Shata MO; Hashem MO; Toosi MB; Karimiani EG; Yeşil G; Lingappa L; Baruah D; Ebrahimzadeh F; Van-Gils J; Faivre L; Zamani M; Galehdari H; Sadeghian S; Shariati G; Mohammad R; van der Smagt J; Qari A; Vincent JB; Innes AM; Dursun A; Özgül RK; Akar HT; Bilguvar K; Mignot C; Keren B; Raveli C; Burglen L; Afenjar A; Kaat LD; van Slegtenhorst M; Alkuraya F; Houlden H; Padilla-Lopez S; Maroofian R; Sacher M; Kruer MC
Brain; 2024 Jan; 147(1):311-324. PubMed ID: 37713627
[TBL] [Abstract][Full Text] [Related]
17. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
[TBL] [Abstract][Full Text] [Related]
18. Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
Fattal-Valevski A; Ben Sira L; Lerman-Sagie T; Strausberg R; Bloch-Mimouni A; Edvardson S; Kaufman R; Chernuha V; Schneebaum Sender N; Heimer G; Ben Zeev B
Eur J Paediatr Neurol; 2021 May; 32():40-45. PubMed ID: 33756211
[TBL] [Abstract][Full Text] [Related]
19. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH; Pais LS; Faundes V; Wood JC; Sveden A; Luria V; Abou Jamra R; Accogli A; Amburgey K; Anderlid BM; Azzarello-Burri S; Basinger AA; Bianchini C; Bird LM; Buchert R; Carre W; Ceulemans S; Charles P; Cox H; Culliton L; Currò A; ; Demurger F; Dowling JJ; Duban-Bedu B; Dubourg C; Eiset SE; Escobar LF; Ferrarini A; Haack TB; Hashim M; Heide S; Helbig KL; Helbig I; Heredia R; Héron D; Isidor B; Jonasson AR; Joset P; Keren B; Kok F; Kroes HY; Lavillaureix A; Lu X; Maas SM; Maegawa GHB; Marcelis CLM; Mark PR; Masruha MR; McLaughlin HM; McWalter K; Melchinger EU; Mercimek-Andrews S; Nava C; Pendziwiat M; Person R; Ramelli GP; Ramos LLP; Rauch A; Reavey C; Renieri A; Rieß A; Sanchez-Valle A; Sattar S; Saunders C; Schwarz N; Smol T; Srour M; Steindl K; Syrbe S; Taylor JC; Telegrafi A; Thiffault I; Trauner DA; van der Linden H; van Koningsbruggen S; Villard L; Vogel I; Vogt J; Weber YG; Wentzensen IM; Widjaja E; Zak J; Baxter S; Banka S; Rodan LH
Am J Hum Genet; 2019 Jun; 104(6):1210-1222. PubMed ID: 31079897
[TBL] [Abstract][Full Text] [Related]
20. GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V; Heyne HO; Vlaskamp DRM; Marwick KFM; Rudolf G; de Bellescize J; Biskup S; Brilstra EH; Brouwer OF; Callenbach PMC; Hentschel J; Hirsch E; Kind PC; Mignot C; Platzer K; Rump P; Skehel PA; Wyllie DJA; Hardingham GE; van Ravenswaaij-Arts CMA; Lesca G; Lemke JR;
Brain; 2019 Jan; 142(1):80-92. PubMed ID: 30544257
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
