Founder c. 1048-1049delGA mutation in NHLRC1 gene in Lafora's disease patients from Serbia

被引：0

作者：

Kecmanovic, M. ^{[1
]}

Jovic, N. ^{[2
]}

Keckarevic-Markovic, M. ^{[1
]}

Keckarevic, D. ^{[1
]}

Stevanovic, G. ^{[2
]}

Romac, S. ^{[1
]}

机构：

[1] Univ Belgrade, Fac Biol, Belgrade, Serbia

[2] Univ Belgrade, Sch Med, Clin Neurol & Psychiat Children & Youth, Belgrade, Serbia

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2012年 / 19卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：236 / 236

页数：1

共 10 条

[1] Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
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[J]. NEUROGENETICS, 2009, 10 (04) : 319 - 323
[2] Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
M. Traoré
G. Landouré
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M. Sangaré
K. Meilleur
S. Coulibaly
S. Traoré
B. Niaré
F. Mochel
A. La Pean
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[J]. neurogenetics, 2009, 10 : 319 - 323
[3] TWONOVEL AND THREE KNOWN EPM2A AND NHLRC1 (EPM2B) GENE VARIANTS LEADING TO LAFORA DISEASE IN TURKISH PATIENTS
Bebek, N.
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[4] A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect
Mili, A.
Ben Charfeddine, I.
Amara, A.
Mamai, O.
Adala, L.
Ben Lazreg, T.
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[J]. CLINICAL GENETICS, 2012, 82 (06) : 534 - 539
[5] Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients
Nuytemans, Karen
Rademakers, Rosa
Theuns, Jessie
Pals, Philippe
Engelborghs, Sebastiaan
Pickut, Barbara
de Pooter, Tim
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Mattheijssens, Maria
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Cras, Patrick
De Deyn, Peter Paul
van Broeckhoven, Christine
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (04) : 471 - 479
[6] Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients
Karen Nuytemans
Rosa Rademakers
Jessie Theuns
Philippe Pals
Sebastiaan Engelborghs
Barbara Pickut
Tim de Pooter
Karin Peeters
Maria Mattheijssens
Marleen Van den Broeck
Patrick Cras
Peter Paul De Deyn
Christine van Broeckhoven
[J]. European Journal of Human Genetics, 2008, 16 : 471 - 479
[7] Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best's disease carrying c.888C > A mutation in BEST1 gene
Bai, Xinyue
Yang, Xian-Jie
Chen, Ling
[J]. STEM CELL RESEARCH, 2019, 38
[8] An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182 T>C ) mutation in the NPC1 gene
Li, Rong
Pradhan, Manisha
Xu, Miao
Roeder, Amanda
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Porter, Forbes D.
Zhen, Wei
[J]. STEM CELL RESEARCH, 2020, 44
[9] Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p. R450C) in the RHOT1 gene encoding Miro1
Chemla, Axel
Arena, Giuseppe
Onal, Gizem
Walter, Jonas
Berenguer-Escuder, Clara
Grossmann, Dajana
Grunewald, Anne
Schwamborn, Jens C.
Kruger, Rejko
[J]. STEM CELL RESEARCH, 2023, 71
[10] p Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson?s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p. T610A) in the RHOT1 gene encoding Miro1
Chemla, Axel
Arena, Giuseppe
Saraiva, Claudia
Berenguer-Escuder, Clara
Grossmann, Dajana
Grunewald, Anne
Klein, Christine
Seibler, Philip
Schwamborn, Jens C.
Kruger, Rejko
[J]. STEM CELL RESEARCH, 2023, 69

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