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C19orf12 mutation carriers and their first-degree relatives require prospective clinical and genetic work-up
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Finsterer, J.
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PARKINSONISM & RELATED DISORDERS,
2021, 89
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Finsterer, J.
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h-index: 0
机构:
Messerli Inst, Klin Landstr,Postfach 20, A-1180 Vienna, Austria Messerli Inst, Klin Landstr,Postfach 20, A-1180 Vienna, Austria
[32]
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy
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Schottmann, G.
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Stenzel, W.
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Luetzkendorf, S.
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Schuelke, M.
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Knierim, E.
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CLINICAL GENETICS,
2014, 85 (03)
:290-292

Schottmann, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Dept Neuropediat, D-13353 Berlin, Germany
Charite, NeuroCure Clin Res Ctr, D-13353 Berlin, Germany Charite, Dept Neuropediat, D-13353 Berlin, Germany

Stenzel, W.
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Inst Neuropathol, D-13353 Berlin, Germany Charite, Dept Neuropediat, D-13353 Berlin, Germany

Luetzkendorf, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Dept Neuropediat, D-13353 Berlin, Germany
Charite, NeuroCure Clin Res Ctr, D-13353 Berlin, Germany Charite, Dept Neuropediat, D-13353 Berlin, Germany

Schuelke, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Dept Neuropediat, D-13353 Berlin, Germany
Charite, NeuroCure Clin Res Ctr, D-13353 Berlin, Germany Charite, Dept Neuropediat, D-13353 Berlin, Germany

Knierim, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Dept Neuropediat, D-13353 Berlin, Germany
Charite, NeuroCure Clin Res Ctr, D-13353 Berlin, Germany Charite, Dept Neuropediat, D-13353 Berlin, Germany
[33]
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration
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Dusek, Petr
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Mekle, Ralf
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Skowronska, Marta
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Acosta-Cabronero, Julio
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Huelnhagen, Till
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Robinson, Simon Daniel
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Schubert, Florian
;
Deschauer, Marcus
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Els, Antje
;
Ittermann, Bernd
;
Schottmann, Gudrun
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Madai, Vince I.
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Paul, Friedemann
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Klopstock, Thomas
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Kmiec, Tomasz
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Niendorf, Thoralf
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Wuerfel, Jens
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Schneider, Susanne A.
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MOVEMENT DISORDERS,
2020, 35 (01)
:142-150

Dusek, Petr
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic
Charles Univ Prague, Ctr Clin Neurosci, Fac Med 1, Prague, Czech Republic
Gen Univ Hosp Prague, Prague, Czech Republic
Charles Univ Prague, Dept Radiol, Fac Med 1, Prague, Czech Republic Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Mekle, Ralf
论文数: 0 引用数: 0
h-index: 0
机构:
PTB, Braunschweig, Germany
PTB, Berlin, Germany
Charite Univ Med Berlin, Ctr Stroke Res Berlin CSB, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Skowronska, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Acosta-Cabronero, Julio
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Inst Neurol, Wellcome Ctr Human Neuroimaging, London, England Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Huelnhagen, Till
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Assoc MDC, Max Delbruck Ctr Mol Med, BUFF, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Robinson, Simon Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Biomed Imaging & Image Guided Therapy, High Field MR Ctr, Vienna, Austria Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Schubert, Florian
论文数: 0 引用数: 0
h-index: 0
机构:
PTB, Braunschweig, Germany
PTB, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Deschauer, Marcus
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Dept Neurol, Munich, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Els, Antje
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Assoc MDC, Max Delbruck Ctr Mol Med, BUFF, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Ittermann, Bernd
论文数: 0 引用数: 0
h-index: 0
机构:
PTB, Braunschweig, Germany
PTB, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Schottmann, Gudrun
论文数: 0 引用数: 0
h-index: 0
机构:
Max Delbrueck Ctr Mol Med, NeuroCure Clin Res Ctr, Berlin, Germany
Max Delbrueck Ctr Mol Med, Expt & Clin Res Ctr, Berlin, Germany
Charite Univ Med Berlin, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Madai, Vince I.
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Ctr Stroke Res Berlin CSB, Berlin, Germany
Charite Univ Med Berlin, Dept Neurosurg, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Paul, Friedemann
论文数: 0 引用数: 0
h-index: 0
机构:
Max Delbrueck Ctr Mol Med, NeuroCure Clin Res Ctr, Berlin, Germany
Max Delbrueck Ctr Mol Med, Expt & Clin Res Ctr, Berlin, Germany
Charite Univ Med Berlin, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Klopstock, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Munich, Germany
German Ctr Neurodegenerat Dis DZNE, Munich, Germany
Munich Cluster Syst Neurol SyNergy, Munich, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Kmiec, Tomasz
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mem Hlth Inst, Dept Neurol & Epileptol, Warsaw, Poland Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

Niendorf, Thoralf
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Assoc MDC, Max Delbruck Ctr Mol Med, BUFF, Berlin, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

论文数: 引用数:
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Schneider, Susanne A.
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Neurol Dept, Munich, Germany Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic
[34]
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
[J].
Remiche, Gauthier
;
Vandernoot, Isabelle
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Sadeghi-Meibodi, Niloufar
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Desmyter, Laurence
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NEUROGENETICS,
2021, 22 (01)
:95-101

Remiche, Gauthier
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles ULB, Clin Univ Bruxelles, Dept Neurol, Hop Erasme,Ctr Reference Neuromusculaire, Route Lennik 808, B-1070 Brussels, Belgium Univ Libre Bruxelles ULB, Clin Univ Bruxelles, Dept Neurol, Hop Erasme,Ctr Reference Neuromusculaire, Route Lennik 808, B-1070 Brussels, Belgium

Vandernoot, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles ULB, Clin Univ Bruxelles, Dept Genet, Hop Erasme, Route Lennik 808, B-1070 Brussels, Belgium Univ Libre Bruxelles ULB, Clin Univ Bruxelles, Dept Neurol, Hop Erasme,Ctr Reference Neuromusculaire, Route Lennik 808, B-1070 Brussels, Belgium

Sadeghi-Meibodi, Niloufar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles ULB, Clin Univ Bruxelles, Dept Radiol, Hop Erasme, Route Lennik 808, B-1070 Brussels, Belgium Univ Libre Bruxelles ULB, Clin Univ Bruxelles, Dept Neurol, Hop Erasme,Ctr Reference Neuromusculaire, Route Lennik 808, B-1070 Brussels, Belgium

Desmyter, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles ULB, Clin Univ Bruxelles, Dept Genet, Hop Erasme, Route Lennik 808, B-1070 Brussels, Belgium Univ Libre Bruxelles ULB, Clin Univ Bruxelles, Dept Neurol, Hop Erasme,Ctr Reference Neuromusculaire, Route Lennik 808, B-1070 Brussels, Belgium
[35]
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+
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Venco, Paola
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Bonora, Massimo
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Giorgi, Carlotta
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Papaleo, Elena
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Iuso, Arcangelo
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Prokisch, Holger
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Pinton, Paolo
;
Tiranti, Valeria
.
FRONTIERS IN GENETICS,
2015, 6

Venco, Paola
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Milan, Italy
IRCCS Fdn Neurol Inst C Besta, Pierfranco & Luisa Mariani Ctr Study Mitochondria, Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Milan, Italy

Bonora, Massimo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ferrara, Sect Pathol Oncol & Expt Biol, I-44100 Ferrara, Italy
Univ Ferrara, Lab Technol Adv Therapies Ctr, Dept Surg & Expt Med, I-44100 Ferrara, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Milan, Italy

论文数: 引用数:
h-index:
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Papaleo, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen, Dept Biol, Struct Biol & NMR Lab, Copenhagen, Denmark IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Milan, Italy

Iuso, Arcangelo
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-80290 Munich, Germany
Helmholtz Zentrum Munchen, Inst Human Genet, Munich, Germany IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Milan, Italy

Prokisch, Holger
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-80290 Munich, Germany
Helmholtz Zentrum Munchen, Inst Human Genet, Munich, Germany IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Milan, Italy

论文数: 引用数:
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机构:

Tiranti, Valeria
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Milan, Italy
IRCCS Fdn Neurol Inst C Besta, Pierfranco & Luisa Mariani Ctr Study Mitochondria, Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Milan, Italy
[36]
C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child
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Alfiya, F.
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Jose, Manna
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Chandrasekharan, Soumya V.
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Sundaram, Soumya
;
Urulangodi, Madhusoodanan
;
Thomas, Bejoy
;
Radhakrishnan, Ashalatha
;
Banerjee, Moinak
;
Menon, Ramshekhar N.
.
JOURNAL OF GENETICS,
2022, 101 (02)

Alfiya, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India

Jose, Manna
论文数: 0 引用数: 0
h-index: 0
机构:
Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India

Chandrasekharan, Soumya V.
论文数: 0 引用数: 0
h-index: 0
机构:
Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India

Sundaram, Soumya
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机构:
Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India

Urulangodi, Madhusoodanan
论文数: 0 引用数: 0
h-index: 0
机构:
Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Biochem, Thiruvananthapuram 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India

Thomas, Bejoy
论文数: 0 引用数: 0
h-index: 0
机构:
Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Imaging Sci, Thiruvananthapuram 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India

Radhakrishnan, Ashalatha
论文数: 0 引用数: 0
h-index: 0
机构:
Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India

Banerjee, Moinak
论文数: 0 引用数: 0
h-index: 0
机构:
Rajiv Gandhi Ctr Biotechnol, Human Mol Genet Lab, Thiruvananthapuram 695014, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India

Menon, Ramshekhar N.
论文数: 0 引用数: 0
h-index: 0
机构:
Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMS, Dept Neurol, Thiruvananthapuram 695011, Kerala, India
[37]
Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene
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de Vries, R. J.
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Jaeger, B.
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Hellebrekers, D. M. E., I
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Reneman, L.
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Verhamme, C.
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Smeets, H. J. M.
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van Maarle, M. C.
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de Visser, M.
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Bleeker, F. E.
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CLINICAL NEUROLOGY AND NEUROSURGERY,
2021, 206

de Vries, R. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

Jaeger, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Neurol, Med Ctr, Amsterdam, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

Hellebrekers, D. M. E., I
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Dept Clin Genet, Med Ctr MUMC, Maastricht, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

Reneman, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Radiol, Med Ctr, Amsterdam, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

Verhamme, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Neurol, Med Ctr, Amsterdam, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

Smeets, H. J. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Dept Clin Genet, Med Ctr MUMC, Maastricht, Netherlands
Maastricht Univ, Med Ctr MUMC, Sch Oncol & Dev Biol, Dept Genet & Cell Biol, Maastricht, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

van Maarle, M. C.
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h-index: 0
机构:
Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

de Visser, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Neurol, Med Ctr, Amsterdam, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

Bleeker, F. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Netherlands Canc Inst, Dept Clin Genet, Amsterdam, Netherlands Univ Amsterdam, Locat Acad Med Ctr, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands