متابعة
Hanns Lochmüller, MD, FAAN
Hanns Lochmüller, MD, FAAN
CHEO Research Institute and The Ottawa Hospital
بريد إلكتروني تم التحقق منه على toh.ca - الصفحة الرئيسية
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
8062015
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, 1-15, 2017‏
7442017
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
7392019
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
6512017
Mutations in dynamin 2 cause dominant centronuclear myopathy‏
M Bitoun, S Maugenre, PY Jeannet, E Lacène, X Ferrer, P Laforêt, ...‏
Nature genetics 37 (11), 1207-1209, 2005‏
5072005
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
4612006
International cooperation to enable the diagnosis of all rare genetic diseases‏
KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ...‏
The American Journal of Human Genetics 100 (5), 695-705, 2017‏
4432017
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
4261995
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, 422-428, 2006‏
4122006
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
3732007
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
3572009
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
3402005
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
3202007
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
3172010
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
3102006
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
3062005
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
3032009
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
2961994
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
2862004
Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)‏
NG Laing, DE Dye, C Wallgren‐Pettersson, G Richard, N Monnier, S Lillis, ...‏
Human mutation 30 (9), 1267-1277, 2009‏
2722009
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مقالات 1–20