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1 . Academic Journal
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
저자
by
Bonifati, Vincenzo
;
Quadri, Marialuisa
;
Mandemakers, Wim
;
Kievit, Anneke J.A.
;
Boon, Agnita J.W.
, et al.
소스
In
The Lancet Neurology
July 2018 17(7):597-608
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7 . Academic Journal
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN
저자
by
Olgiati, Simone
;
Doğu, Okan
;
Tufekcioglu, Zeynep
;
Diler, Yunus
;
Saka, Esen
, et al.
소스
In
Parkinsonism and Related Disorders
June 2017 39:64-70
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7 . Academic Journal
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family
저자
by
Kuipers, Demy J.S.
;
Tufekcioglu, Zeynep
;
Bilgiç, Başar
;
Olgiati, Simone
;
Dremmen, Marjolein H.G.
, et al.
소스
In
Parkinsonism and Related Disorders
September 2019 66:228-231
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7 . Academic Journal
Transcriptome Profiling of Porcine Naïve, Intermediate and Terminally Differentiated CD8
+
T Cells.
저자
by
Lagumdzic, Emil
;
Pernold, Clara
;
Viano, Marta
;
Olgiati, Simone
;
Schmitt, Michael W.
, et al.
소스
Frontiers in Immunology; 2/21/2022, Vol. 13, p1-17, 17p
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7 . Academic Journal
Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family
저자
by
Olgiati, Simone
;
Thomas, Astrid
;
Quadri, Marialuisa
;
Breedveld, Guido J.
;
Graafland, Josja
, et al.
소스
In
Parkinsonism and Related Disorders
August 2015 21(8):981-986
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7 . Academic Journal
A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism
저자
by
Yalcin-Cakmakli, Gul
;
Olgiati, Simone
;
Quadri, Marialuisa
;
Breedveld, Guido J.
;
Cortelli, Pietro
, et al.
소스
In
Parkinsonism and Related Disorders
November 2014 20(11):1248-1252
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7 . Academic Journal
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients
저자
by
Verhoeven, Willem M.A.
;
Egger, Jos I.M.
;
Koolen, David A.
;
Yntema, Helger
;
Olgiati, Simone
, et al.
소스
In
Parkinsonism and Related Disorders
March 2014 20(3):332-336
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7 . Academic Journal
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
저자
by
Kuipers, Demy J. S.
;
Mandemakers, Wim
;
Lu, Chin‐Song
;
Olgiati, Simone
;
Breedveld, Guido J.
, et al.
소스
Annals of Neurology
. Mar2021, Vol. 89 Issue 3, p485-497. 13p.
Full Text (Wiley)
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7 . Academic Journal
DNAJC6 mutations associated with early-onset Parkinson's disease
저자
by
Olgiati, Simone
;
Quadri, Marialuisa
;
Fang, Mingyan
;
Rood, Janneke P.M.A.
;
Saute, Jonas A.
, et al.
소스
In
Parkinsonism and Related Disorders
January 2016 22 Supplement 2:e144-e144
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7 . Academic Journal
DYT16/PRKRA founder mutation causes childhood-onset generalized dystonia in a family from Southern Italy
저자
by
Quadri, Marialuisa
;
Olgiati, Simone
;
Sensi, Mariachiara
;
Gualandi, Francesca
;
Groppo, Elisabetta
, et al.
소스
In
Parkinsonism and Related Disorders
January 2016 22 Supplement 2:e77-e78
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