W. Wallefeld: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2 -related nemaline and cap myopathy

Marttila, Minttu, Lemola, Elina, Wallefeld, William, Memo, Massimiliano, Donner, Kati, Laing, Nigel G., Marston, Steven, Grönholm, Mikaela, Wallgren‑Pettersson, Carina

Journal:

Biochemical Journal

Year:

2012

Language:

english

File:

PDF, 882 KB

english, 2012

2

Clinical utility gene card for: Laing distal myopathy

Lamont, Phillipa, Wallefeld, William, Davis, Mark, Udd, Bjarne, Laing, Nigel

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 110 KB

english, 2010

3

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

William Wallefeld, Sabine Krause, Kristen J. Nowak, Danielle Dye, Rita Horváth, Zoltán Molnár, Miklós Szabó, Kazuhiro Hashimoto, Cristina Reina, Jose De Carlos, Jordi Rosell, Ana Cabello, Carmen Navar

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 558 KB

english, 2006

4

G.P.17.01 A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy

M. Auer-Grumbach, E. John, W. Wallefeld, C. Fischer, M. Speicher, N. Laing

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 62 KB

english, 2007

5

G.P.7.12 Multiminicore myopathy caused by a mutation in MYH7

P.J. Lamont, W. Wallefeld, R. Junckerstorff, N.G. Laing

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

6

G.P.7.10 Investigation of the patho-biology of MYH7 myopathy mutations

W. Wallefeld, K.J. Nowak, E. Ingley, W. Stanley, C. Bond, N. Laing

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

7

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

Gianina Ravenscroft, Jo M. Wilmshurst, Komala Pillay, Padma Sivadorai, William Wallefeld, Kristen J. Nowak, Nigel G. Laing

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 981 KB

english, 2011

8

Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

Pankaj B. Agrawal, Rebecca S. Greenleaf, Kinga K. Tomczak, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, William Wallefeld, Nigel G. Laing, Basil T. Darras, Sutherland K. Maciver, Philip R. Dormi

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.74 MB

english, 2007

9

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

Cullup, T., Lamont, P.J., Cirak, S., Damian, M.S., Wallefeld, W., Gooding, R., Tan, S.V., Sheehan, J., Muntoni, F., Abbs, S., Sewry, C.A., Dubowitz, V., Laing, N.G., Jungbluth, H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 1.25 MB

english, 2012

10

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation

Finsterer, Josef, Brandau, Oliver, Stöllberger, Claudia, Wallefeld, William, Laing, Nigel G., Laccone, Franco

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 361 KB

english, 2014

11

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7 ) Distal Myopathy

Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Be

Journal:

Year:

2014

Language:

english

File:

PDF, 760 KB

english, 2014

12

Myosinspeichermyopathie: eine seltene Unterform der Proteinaggregationsmyopathien

Kiphuth, I., Neuen-Jacob, E., Struffert, T., Wehner, M., Wallefeld, W., Laing, N., Schröder, R.

Journal:

Fortschritte der Neurologie · Psychiatrie

Year:

2010

File:

PDF, 249 KB

2010