PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier… - Brain, 2014 - academic.oup.com
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by
early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser …
被引用次数：237 相关文章
[PDF] academia.edu

[PDF][PDF] PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier… - Brain, 2014 - academia.edu
PNPLA6. In five of seven Boucher-Neuhäuser syndrome/Gordon Holmes syndrome families,
we identified nine rare conserved and damaging mutations by applying whole exome …

[引用][C] PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier… - Brain, 2014 - ub01.uni-tuebingen.de
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a
broad neurodegenerative spectrum PNPLA6 mutations cause Boucher-Neuhauser and Gordon …

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

M Synofzik, MA Gonzalez, CM Lourenco… - Brain: a Journal of …, 2013 - europepmc.org
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by
early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser …

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M Synofzik, MA Gonzalez… - Brain (London …, 2014 - scholarship.miami.edu
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a
broad neurodegenerative spectrum - University of Miami Logo image Menu Scholarship …
[PDF] tum.de

[PDF][PDF] PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M Synofzik, MA Gonzalez, CM Lourenco… - Brain: A Journal of …, 2014 - mediatum.ub.tum.de
PNPLA6. In five of seven Boucher-Neuhäuser syndrome/Gordon Holmes syndrome families,
we identified nine rare conserved and damaging mutations by applying whole exome …

[引用][C] PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M SYNOFZIK, MA GONZALEZ, A DURR, L SCHÖLS… - Brain, 2014 - pascal-francis.inist.fr
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a
broad neurodegenerative spectrum CNRS Inist Pascal-Francis CNRS Pascal and Francis …

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M Synofzik, MA Gonzalez… - Brain: a journal of …, 2014 - pubmed.ncbi.nlm.nih.gov
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by
early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser …
[PDF] researchgate.net

[PDF][PDF] PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier… - 2013 - researchgate.net
PNPLA6. In five of seven Boucher-Neuhäuser syndrome/Gordon Holmes syndrome families,
we identified nine rare conserved and damaging mutations by applying whole exome …

[引用][C] PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier… - Brain, 2013 - cir.nii.ac.jp
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a
broad neurodegenerative spectrum | CiNii Research CiNii 国立情報学研究所 学術情報ナビゲータ …