Hanns Lochmüller, MD, FAAN
Hanns Lochmüller, MD, FAAN
CHEO Research Institute and The Ottawa Hospital
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The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
6082017
Mutations in dynamin 2 cause dominant centronuclear myopathy
M Bitoun, S Maugenre, PY Jeannet, E Lacene, X Ferrer, P Laforêt, ...
Nature genetics 37 (11), 1207-1209, 2005
4272005
The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ...
Human mutation 36 (4), 395-402, 2015
4182015
The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants.
J Huard, H Lochmüller, G Acsadi, A Jani, B Massie, G Karpati
Gene therapy 2 (2), 107-115, 1995
4131995
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
R Horvath, G Hudson, G Ferrari, N Fütterer, S Ahola, E Lamantea, ...
Brain 129 (7), 1674-1684, 2006
4072006
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
3912019
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
K Gempel, H Topaloglu, B Talim, P Schneiderat, BGH Schoser, VH Hans, ...
Brain 130 (8), 2037-2044, 2007
3112007
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
B Wirth, L Brichta, B Schrank, H Lochmüller, S Blick, A Baasner, R Heller
Human genetics 119 (4), 422-428, 2006
3022006
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy
M Vorgerd, PFM Van der Ven, V Bruchertseifer, T Löwe, RA Kley, ...
The American Journal of Human Genetics 77 (2), 297-304, 2005
2902005
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
W Müller-Felber, R Horvath, K Gempel, T Podskarbi, Y Shin, D Pongratz, ...
Neuromuscular Disorders 17 (9-10), 698-706, 2007
2742007
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
W Weraarpachai, H Antonicka, F Sasarman, J Seeger, B Schrank, ...
Nature genetics 41 (7), 833-837, 2009
2722009
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy–a literature review
IEC Verhaart, A Robertson, IJ Wilson, A Aartsma-Rus, S Cameron, ...
Orphanet journal of rare diseases 12 (1), 1-15, 2017
2642017
Dok-7 mutations underlie a neuromuscular junction synaptopathy
D Beeson, O Higuchi, J Palace, J Cossins, H Spearman, S Maxwell, ...
Science 313 (5795), 1975-1978, 2006
2642006
Emergence of early region 1-containing replication-competent adenovirus in stocks of replication-defective adenovirus recombinants (ΔE1+ ΔE3) during multiple passages in 293 cells
H Lochmüller, A Jani, J Huard, S Prescott, M Simoneau, B Massie, ...
Human gene therapy 5 (12), 1485-1491, 1994
2641994
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ...
Nature genetics 41 (6), 654-656, 2009
2622009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ...
Nature genetics 42 (2), 160-164, 2010
2572010
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
J Senderek, M Krieger, C Stendel, C Bergmann, M Moser, ...
Nature genetics 37 (12), 1312-1314, 2005
2542005
Risk of developing a mitochondrial DNA deletion disorder
PF Chinnery, S DiMauro, S Shanske, EA Schon, M Zeviani, C Mariotti, ...
The Lancet 364 (9434), 592-596, 2004
2442004
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
J Moll, P Barzaghi, S Lin, G Bezakova, H Lochmüller, E Engvall, U Müller, ...
Nature 413 (6853), 302-307, 2001
2352001
High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study
MC Walter, H Lochmüller, M Toepfer, B Schlotter, P Reilich, M Schröder, ...
Journal of neurology 247 (1), 22-28, 2000
2312000
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