BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

293 related articles for article (PubMed ID: 23077017)

  • 21. PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
    Becker F; Schubert J; Striano P; Anttonen AK; Liukkonen E; Gaily E; Gerloff C; Müller S; Heußinger N; Kellinghaus C; Robbiano A; Polvi A; Zittel S; von Oertzen TJ; Rostasy K; Schöls L; Warner T; Münchau A; Lehesjoki AE; Zara F; Lerche H; Weber YG
    J Neurol; 2013 May; 260(5):1234-44. PubMed ID: 23299620
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The clinical and genetic heterogeneity of paroxysmal dyskinesias.
    Gardiner AR; Jaffer F; Dale RC; Labrum R; Erro R; Meyer E; Xiromerisiou G; Stamelou M; Walker M; Kullmann D; Warner T; Jarman P; Hanna M; Kurian MA; Bhatia KP; Houlden H
    Brain; 2015 Dec; 138(Pt 12):3567-80. PubMed ID: 26598494
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
    Silveira-Moriyama L; Gardiner AR; Meyer E; King MD; Smith M; Rakshi K; Parker A; Mallick AA; Brown R; Vassallo G; Jardine PE; Guerreiro MM; Lees AJ; Houlden H; Kurian MA
    Dev Med Child Neurol; 2013 Apr; 55(4):327-34. PubMed ID: 23363396
    [TBL] [Abstract][Full Text] [Related]  

  • 24. PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
    Okumura A; Shimojima K; Kurahashi H; Numoto S; Shimada S; Ishii A; Ohmori I; Takahashi S; Awaya T; Kubota T; Sakakibara T; Ishihara N; Hattori A; Torisu H; Tohyama J; Inoue T; Haibara A; Nishida T; Yuhara Y; Miya K; Tanaka R; Hirose S; Yamamoto T
    Seizure; 2019 Oct; 71():1-5. PubMed ID: 31154286
    [TBL] [Abstract][Full Text] [Related]  

  • 25. TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions.
    Wang H; Huang P; Zhu M; Fang X; Wu C; Hong D
    Neurol Sci; 2022 Oct; 43(10):6095-6099. PubMed ID: 35727387
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine.
    Dale RC; Gardiner A; Antony J; Houlden H
    Dev Med Child Neurol; 2012 Oct; 54(10):958-60. PubMed ID: 22845787
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel
    Lu JG; Bishop J; Cheyette S; Zhulin IB; Guo S; Sobreira N; Brenner SE
    Cold Spring Harb Mol Case Stud; 2018 Feb; 4(1):. PubMed ID: 29167286
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
    Ono S; Yoshiura K; Kinoshita A; Kikuchi T; Nakane Y; Kato N; Sadamatsu M; Konishi T; Nagamitsu S; Matsuura M; Yasuda A; Komine M; Kanai K; Inoue T; Osamura T; Saito K; Hirose S; Koide H; Tomita H; Ozawa H; Niikawa N; Kurotaki N
    J Hum Genet; 2012 May; 57(5):338-41. PubMed ID: 22399141
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
    Liu Q; Qi Z; Wan XH; Li JY; Shi L; Lu Q; Zhou XQ; Qiao L; Wu LW; Liu XQ; Yang W; Liu Y; Cui LY; Zhang X
    J Med Genet; 2012 Feb; 49(2):79-82. PubMed ID: 22209761
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions.
    Steinlein OK; Villain M; Korenke C
    Seizure; 2012 Nov; 21(9):740-2. PubMed ID: 22877996
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.
    Chen Y; Chen D; Zhao S; Liu G; Li H; Wu ZY
    Front Med; 2021 Dec; 15(6):877-886. PubMed ID: 34825340
    [TBL] [Abstract][Full Text] [Related]  

  • 32. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
    Heron SE; Grinton BE; Kivity S; Afawi Z; Zuberi SM; Hughes JN; Pridmore C; Hodgson BL; Iona X; Sadleir LG; Pelekanos J; Herlenius E; Goldberg-Stern H; Bassan H; Haan E; Korczyn AD; Gardner AE; Corbett MA; Gécz J; Thomas PQ; Mulley JC; Berkovic SF; Scheffer IE; Dibbens LM
    Am J Hum Genet; 2012 Jan; 90(1):152-60. PubMed ID: 22243967
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.
    Sangu N; Shimojima K; Akihisa O; Ando T; Yamamoto T
    Epilepsy Res; 2015 Dec; 118():10-3. PubMed ID: 26561923
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.
    Zhang LM; An Y; Pan G; Ding YF; Zhou YF; Yao YH; Wu BL; Zhou SZ
    J Child Neurol; 2015 Sep; 30(10):1263-9. PubMed ID: 25403460
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.
    Baldi S; Zhu JL; Hu QY; Wang JL; Zhang JB; Zhang SH
    Behav Neurol; 2020; 2020():2097059. PubMed ID: 32509037
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [PRRT2 gene-related paroxysmal disorders].
    Li J; Mao X; Wang J; Li N; Tang B
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):595-9. PubMed ID: 25297589
    [TBL] [Abstract][Full Text] [Related]  

  • 37. PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood.
    Nobile C; Striano P
    Prog Brain Res; 2014; 213():141-58. PubMed ID: 25194488
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.
    Labate A; Tarantino P; Palamara G; Gagliardi M; Cavalcanti F; Ferlazzo E; Sturniolo M; Incorpora G; Annesi G; Aguglia U; Gambardella A
    Epilepsy Res; 2013 May; 104(3):280-4. PubMed ID: 23352743
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A Novel Truncation Mutation of the
    Kita M; Kuwata Y; Murase N; Akiyama Y; Usui T
    Mov Disord Clin Pract; 2017; 4(4):625-628. PubMed ID: 30713971
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.