487 related articles for article (PubMed ID: 23804577)
21. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L; Breedveld GJ; Manganelli F; Iodice R; Pisciotta C; Nolano M; Punzo F; Quarantelli M; Pappatà S; Di Fonzo A; Oostra BA; Bonifati V
Neurogenetics; 2011 Feb; 12(1):33-9. PubMed ID: 20853184
[TBL] [Abstract][Full Text] [Related]
22. A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.
Taghavi S; Chaouni R; Tafakhori A; Azcona LJ; Firouzabadi SG; Omrani MD; Jamshidi J; Emamalizadeh B; Shahidi GA; Ahmadi M; Habibi SAH; Ahmadifard A; Fazeli A; Motallebi M; Petramfar P; Askarpour S; Askarpour S; Shahmohammadibeni HA; Shahmohammadibeni N; Eftekhari H; Shafiei Zarneh AE; Mohammadihosseinabad S; Khorrami M; Najmi S; Chitsaz A; Shokraeian P; Ehsanbakhsh H; Rezaeidian J; Ebrahimi Rad R; Madadi F; Andarva M; Alehabib E; Atakhorrami M; Mortazavi SE; Azimzadeh Z; Bayat M; Besharati AM; Harati-Ghavi MA; Omidvari S; Dehghani-Tafti Z; Mohammadi F; Mohammad Hossein Pour B; Noorollahi Moghaddam H; Esmaili Shandiz E; Habibi A; Taherian-Esfahani Z; Darvish H; Paisán-Ruiz C
Mol Neurobiol; 2018 Apr; 55(4):3477-3489. PubMed ID: 28502045
[TBL] [Abstract][Full Text] [Related]
23. Early-Onset Parkinsonism: Case Report and Review of the Literature.
Al-Rumayyan A; Klein C; Alfadhel M
Pediatr Neurol; 2017 Feb; 67():102-106.e1. PubMed ID: 28062148
[TBL] [Abstract][Full Text] [Related]
24. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S; Drouet V; Majounie E; Deramecourt V; Jacoupy M; Nicolas A; Cormier-Dequaire F; Hassoun SM; Pujol C; Ciura S; Erpapazoglou Z; Usenko T; Maurage CA; Sahbatou M; Liebau S; Ding J; Bilgic B; Emre M; Erginel-Unaltuna N; Guven G; Tison F; Tranchant C; Vidailhet M; Corvol JC; Krack P; Leutenegger AL; Nalls MA; Hernandez DG; Heutink P; Gibbs JR; Hardy J; Wood NW; Gasser T; Durr A; Deleuze JF; Tazir M; Destée A; Lohmann E; Kabashi E; Singleton A; Corti O; Brice A; ;
Am J Hum Genet; 2016 Mar; 98(3):500-513. PubMed ID: 26942284
[TBL] [Abstract][Full Text] [Related]
25. Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
De Rosa A; Pellegrino T; Pappatà S; Lieto M; Bonifati V; Palma V; Topa A; Santoro L; Bilo L; Cuocolo A; De Michele G
Parkinsonism Relat Disord; 2016 Feb; 23():102-5. PubMed ID: 26725142
[TBL] [Abstract][Full Text] [Related]
26. DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Ng J; Cortès-Saladelafont E; Abela L; Termsarasab P; Mankad K; Sudhakar S; Gorman KM; Heales SJR; Pope S; Biassoni L; Csányi B; Cain J; Rakshi K; Coutts H; Jayawant S; Jefferson R; Hughes D; García-Cazorla À; Grozeva D; Raymond FL; Pérez-Dueñas B; De Goede C; Pearson TS; Meyer E; Kurian MA
Mov Disord; 2020 Aug; 35(8):1357-1368. PubMed ID: 32472658
[TBL] [Abstract][Full Text] [Related]
27. Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.
Fasano D; Parisi S; Pierantoni GM; De Rosa A; Picillo M; Amodio G; Pellecchia MT; Barone P; Moltedo O; Bonifati V; De Michele G; Nitsch L; Remondelli P; Criscuolo C; Paladino S
Cell Death Dis; 2018 Mar; 9(3):385. PubMed ID: 29515184
[TBL] [Abstract][Full Text] [Related]
28. A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.
Chen H; Huang X; Yuan L; Xia H; Xu H; Yang Y; Zheng W; Deng H
Neurosci Lett; 2016 Jun; 624():100-4. PubMed ID: 27177722
[TBL] [Abstract][Full Text] [Related]
29. Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.
Ephraty L; Porat O; Israeli D; Cohen OS; Tunkel O; Yael S; Hatano Y; Hattori N; Hassin-Baer S
Mov Disord; 2007 Mar; 22(4):566-9. PubMed ID: 17260336
[TBL] [Abstract][Full Text] [Related]
30. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
Ibáñez P; Lesage S; Lohmann E; Thobois S; De Michele G; Borg M; Agid Y; Dürr A; Brice A;
Brain; 2006 Mar; 129(Pt 3):686-94. PubMed ID: 16401616
[TBL] [Abstract][Full Text] [Related]
31. Craniocervical dystonia with levodopa-responsive parkinsonism co-segregating with a pathogenic ANO3 mutation in a Taiwanese family.
Kuo MC; Lin HI; Lin CH
Parkinsonism Relat Disord; 2019 May; 62():236-238. PubMed ID: 30692049
[No Abstract] [Full Text] [Related]
32. A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease.
Xie F; Chen S; Cen ZD; Chen Y; Yang DH; Wang HT; Zhang BR; Luo W
Parkinsonism Relat Disord; 2019 Dec; 69():134-137. PubMed ID: 31751865
[TBL] [Abstract][Full Text] [Related]
33. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.
Valente EM; Bentivoglio AR; Dixon PH; Ferraris A; Ialongo T; Frontali M; Albanese A; Wood NW
Am J Hum Genet; 2001 Apr; 68(4):895-900. PubMed ID: 11254447
[TBL] [Abstract][Full Text] [Related]
34. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.
Köroğlu Ç; Baysal L; Cetinkaya M; Karasoy H; Tolun A
Parkinsonism Relat Disord; 2013 Mar; 19(3):320-4. PubMed ID: 23211418
[TBL] [Abstract][Full Text] [Related]
35. R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.
Sina F; Shojaee S; Elahi E; Paisán-Ruiz C
Eur J Neurol; 2009 Jan; 16(1):101-4. PubMed ID: 19087156
[TBL] [Abstract][Full Text] [Related]
36. A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
Lohmann E; Köroğlu Ç; Hanagasi HA; Dursun B; Taşan E; Tolun A
Parkinsonism Relat Disord; 2012 Feb; 18(2):191-3. PubMed ID: 22018912
[TBL] [Abstract][Full Text] [Related]
37. Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
Drouet V; Lesage S
Biomed Res Int; 2014; 2014():289728. PubMed ID: 25302295
[TBL] [Abstract][Full Text] [Related]
38. A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.
Maj M; Taylor CL; Landau K; Toriello HV; Li D; Bhoj EJ; Hakonarson H; Nelson B; Gluschitz S; Walker RH; Sobering AK
Mol Genet Genomic Med; 2023 Jan; 11(1):e2064. PubMed ID: 36148638
[TBL] [Abstract][Full Text] [Related]
39. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.
Klein C; Pramstaller PP; Kis B; Page CC; Kann M; Leung J; Woodward H; Castellan CC; Scherer M; Vieregge P; Breakefield XO; Kramer PL; Ozelius LJ
Ann Neurol; 2000 Jul; 48(1):65-71. PubMed ID: 10894217
[TBL] [Abstract][Full Text] [Related]
40. PINK1-linked parkinsonism is associated with Lewy body pathology.
Samaranch L; Lorenzo-Betancor O; Arbelo JM; Ferrer I; Lorenzo E; Irigoyen J; Pastor MA; Marrero C; Isla C; Herrera-Henriquez J; Pastor P
Brain; 2010 Apr; 133(Pt 4):1128-42. PubMed ID: 20356854
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]