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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 30579817)

  • 1. A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
    Graziola F; Stregapede F; Travaglini L; Garone G; Verardo M; Bosco L; Pro S; Bertini E; Curatolo P; Vigevano F; Capuano A
    Parkinsonism Relat Disord; 2019 Apr; 61():4-6. PubMed ID: 30579817
    [No Abstract]   [Full Text] [Related]  

  • 2. Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.
    Marcé-Grau A; Correa M; Vanegas MI; Muñoz-Ruiz T; Ferrer-Aparicio S; Baide H; Macaya A; Pérez-Dueñas B
    Parkinsonism Relat Disord; 2019 Apr; 61():7-9. PubMed ID: 30642807
    [No Abstract]   [Full Text] [Related]  

  • 3. KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.
    Todisco M; Gana S; Cosentino G; Errichiello E; Arceri S; Avenali M; Valente EM; Alfonsi E
    Parkinsonism Relat Disord; 2020 Sep; 78():129-133. PubMed ID: 32823241
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Childhood onset myoclonus-dystonia associated with a novel KCTD17 variant in an Indian patient.
    Garg D; Kapoor H; Ahmad I; Aroosa M; Agarwal A; Srivastava AK; Faruq M
    Parkinsonism Relat Disord; 2023 Dec; 117():105925. PubMed ID: 37944475
    [No Abstract]   [Full Text] [Related]  

  • 5. KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?
    Mencacci NE; Brüggemann N
    Parkinsonism Relat Disord; 2019 Apr; 61():1-3. PubMed ID: 30894301
    [No Abstract]   [Full Text] [Related]  

  • 6. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
    Mencacci NE; Rubio-Agusti I; Zdebik A; Asmus F; Ludtmann MH; Ryten M; Plagnol V; Hauser AK; Bandres-Ciga S; Bettencourt C; Forabosco P; Hughes D; Soutar MM; Peall K; Morris HR; Trabzuni D; Tekman M; Stanescu HC; Kleta R; Carecchio M; Zorzi G; Nardocci N; Garavaglia B; Lohmann E; Weissbach A; Klein C; Hardy J; Pittman AM; Foltynie T; Abramov AY; Gasser T; Bhatia KP; Wood NW
    Am J Hum Genet; 2015 Jun; 96(6):938-47. PubMed ID: 25983243
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
    Dy ME; Chang FC; Jesus SD; Anselm I; Mahant N; Zeilman P; Rodan LH; Foote KD; Tan WH; Eskandar E; Sharma N; Okun MS; Fung VS; Waugh JL
    J Child Neurol; 2016 Jul; 31(8):1027-35. PubMed ID: 27052971
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Intrafamilial heterogeneity of facial hyperkinesias: chance association of tics, cranial dystonia, and Huntington's disease?
    Müller J; Wenning GK; Wissel J; Poewe W
    Mov Disord; 2001 Mar; 16(2):370-2. PubMed ID: 11295801
    [No Abstract]   [Full Text] [Related]  

  • 9. Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.
    Gerrits MC; Foncke EM; Koelman JH; Tijssen MA
    Eur J Paediatr Neurol; 2009 Mar; 13(2):178-80. PubMed ID: 18571946
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
    Tian XJ; Ding CH; Zhang YH; Dai LF; Chen CH; Li JW; Wang X; Han TL; Wang XH; Deng J
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):123-128. PubMed ID: 32102149
    [No Abstract]   [Full Text] [Related]  

  • 11. Deep brain stimulation for hyperkinetic disorders.
    Montgomery EB
    Neurosurg Focus; 2004 Jul; 17(1):E1. PubMed ID: 15264770
    [TBL] [Abstract][Full Text] [Related]  

  • 12. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
    Asmus F; Langseth A; Doherty E; Nestor T; Munz M; Gasser T; Lynch T; King MD
    Mov Disord; 2009 Apr; 24(5):702-9. PubMed ID: 19117362
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.
    Foncke EM; Gerrits MC; van Ruissen F; Baas F; Hedrich K; Tijssen CC; Klein C; Tijssen MA
    Neurology; 2006 Nov; 67(9):1677-80. PubMed ID: 17101905
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recognizing Primary Myoclonus Dystonia.
    Ghosh D
    Pediatr Neurol; 2016 Aug; 61():114. PubMed ID: 27363292
    [No Abstract]   [Full Text] [Related]  

  • 15. A case of congenital cataracts, facial dysmorphisms, neuropathy, and hyperkinetic movement disorder.
    Manganelli F; Dubbioso R; Esposito M; Marinò C; Pisciotta C; Pignatelli S; Santoro L
    Mov Disord; 2013 Apr; 28(4):559-60. PubMed ID: 23408394
    [No Abstract]   [Full Text] [Related]  

  • 16. Impact of bilateral pallidal stimulation on DYT1-generalized dystonia in Japanese patients.
    Goto S; Yamada K; Shimazu H; Murase N; Matsuzaki K; Tamura T; Nagahiro S; Kuratsu J; Kaji R
    Mov Disord; 2006 Oct; 21(10):1785-7. PubMed ID: 16830314
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
    Mencacci NE; Brockmann MM; Dai J; Pajusalu S; Atasu B; Campos J; Pino G; Gonzalez-Latapi P; Patzke C; Schwake M; Tucci A; Pittman A; Simon-Sanchez J; Carvill GL; Balint B; Wiethoff S; Warner TT; Papandreou A; Soo A; Rein R; Kadastik-Eerme L; Puusepp S; Reinson K; Tomberg T; Hanagasi H; Gasser T; Bhatia KP; Kurian MA; Lohmann E; Õunap K; Rosenmund C; Südhof TC; Wood NW; Krainc D; Acuna C
    J Clin Invest; 2021 Apr; 131(7):. PubMed ID: 33539324
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Myoclonus-dystonia syndrome.
    Nardocci N
    Handb Clin Neurol; 2011; 100():563-75. PubMed ID: 21496608
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
    Chen XP; Zhang YW; Zhang SS; Chen Q; Burgunder JM; Wu SH; Yang Y; Luo ZM; Shang HF
    Mov Disord; 2008 Jul; 23(10):1472-5. PubMed ID: 18581468
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.
    Koy A; Cirak S; Gonzalez V; Becker K; Roujeau T; Milesi C; Baleine J; Cambonie G; Boularan A; Greco F; Perrigault PF; Cances C; Dorison N; Doummar D; Roubertie A; Beroud C; Körber F; Stüve B; Waltz S; Mignot C; Nava C; Maarouf M; Coubes P; Cif L
    J Neurol Sci; 2018 Aug; 391():31-39. PubMed ID: 30103967
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.