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Czermin, B.
18  results:
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1

P180 – 1827 NDFUS8-related Complex I Deficiency – "PEO-Plus..:

Della Marina, A ; Schara, U ; Pyle, A...
European Journal of Paediatric Neurology.  17 (2013)  - p. S103 , 2013
Link: https://doi.org/10.1016/..
 
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2

RRM2Bmutations are frequent in familial PEO with multiple m..:

Fratter, C. ; Raman, P. ; Alston, C.L....
Neurology.  76 (2011)  23 - p. 2032-2034 , 2011
Link: https://doi.org/10.1212/..
 
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3

P04.2 Acute liver failure with subsequent cirrhosis as the ..:

Schara, U. ; von Kleist-Retzow, J.-C. ; Pyle, A....
European Journal of Paediatric Neurology.  15 (2011)  - p. S45-S46 , 2011
Link: https://doi.org/10.1016/..
 
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4

P64 Neutral lipid storage myopathy due to PNPLA2 mutations ..:

Horvath, R. ; Reilich, P. ; Krause, S....
Neuromuscular Disorders.  21 (2011)  - p. S25 , 2011
Link: https://doi.org/10.1016/..
 
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5

P60 Dominant and recessive RRM2B mutations cause familial P..:

Fratter, C. ; Raman, P. ; Alston, C....
Neuromuscular Disorders.  21 (2011)  - p. S23 , 2011
Link: https://doi.org/10.1016/..
 
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6

Multi-system neurological disease is common in patients wit..:

Yu-Wai-Man, P. ; Griffiths, P.G. ; Gorman, G.S....
Brain.  133 (2010)  3 - p. 771-786 , 2010
Link: https://doi.org/10.1093/..
 
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7

P75 Infantile reversible COX deficiency myopathy caused by ..:

Horvath, R. ; Kemp, J.P. ; Tuppen, H.A.L....
Neuromuscular Disorders.  20 (2010)  - p. S25 , 2010
Link: https://doi.org/10.1016/..
 
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8

The clinical, histochemical, and molecular spectrum ofPEO1(..:

Fratter, C. ; Gorman, G.S. ; Stewart, J.D....
Neurology.  74 (2010)  20 - p. 1619-1626 , 2010
Link: https://doi.org/10.1212/..
 
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9

P79 What modifies the clinical presentation of the common h..:

Neeve, V.C.M. ; van den Bosch, B. ; Van Goethem, G....
Neuromuscular Disorders.  20 (2010)  - p. S26 , 2010
Link: https://doi.org/10.1016/..
 
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10

P4.60 Long-term survival of neonatal mitochondrial complex ..:

Tuppen, H.A.L. ; Fehmi, J. ; Czermin, B....
Neuromuscular Disorders.  20 (2010)  9-10 - p. 677 , 2010
Link: https://doi.org/10.1016/..
 
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11

Collated mutations in mitochondrial DNA (mtDNA) depletion s..:

Poulton, J. ; Hirano, M. ; Spinazzola, A....
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1792 (2009)  12 - p. 1109-1112 , 2009
Link: https://doi.org/10.1016/..
 
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12

RRM2B mutations are frequent in familial PEO with multiple ..:

Fratter, C ; Raman, P ; Alston, C.L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109879.  , 2011
Link: http://www.ncbi.nlm.nih...
 
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13

Multi-system neurological disease is common in patients wit..:

Yu-Wai-Man, P ; Griffiths, PG ; Gorman, GS...
https://www.repository.cam.ac.uk/handle/1810/290368.  , 2010
Link: https://www.repository.c..
 
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14

The clinical, histochemical, and molecular spectrum of PEO1..:

Fratter, C ; Gorman, G.S ; Stewart, J.D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2875130.  , 2010
Link: http://www.ncbi.nlm.nih...
 
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15

Collated mutations in mitochondrial DNA (mtDNA) depletion s..:

Poulton, J ; Hirano, M ; Spinazzola, A...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.bbadis.2009.08.016.  , 2009
Link: https://hal.archives-ouv..
 
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