C Wallgren-Pettersson - JoVE Visualize

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Neuromuscular Disorders : NMD|June 1, 1997

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?B Udd, R Krahe, C Wallgren-Pettersson, et al.

Journal of Medical Genetics|August 1, 1990

Genetics of congenital nemaline myopathy: a study of 10 familiesC Wallgren-Pettersson, H Kääriäinen, J Rapola, et al.

Clinical Dysmorphology|July 12, 2001

Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated childrenH Kääriäinen, C Wallgren-Pettersson, A Clarke, et al.

Journal of the Neurological Sciences|August 1, 1993

Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severityC Wallgren-Pettersson, B Jasani, L G Rosser, et al.

Acta Neurologica Scandinavica|September 2, 1998

High prevalence of Kennedy's disease in Western Finland -- is the syndrome underdiagnosed?B Udd, V Juvonen, L Hakamies, et al.

Neuromuscular Disorders : NMD|March 21, 2001

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathyC A Sewry, S C Brown, K Pelin, et al.

Journal of Neuromuscular Diseases|November 19, 2016

A Large Deletion Affecting TPM3, Causing Severe Nemaline MyopathyK Kiiski, V-L Lehtokari, A Y Manzur, et al.

Neuromuscular Disorders : NMD|January 5, 2000

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathyP Tan, J Briner, E Boltshauser, et al.

Neuromuscular Disorders : NMD|September 27, 2012

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genesK Kiiski, L Laari, V-L Lehtokari, et al.

Journal of Medical Genetics|September 1, 1995

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studiesC Wallgren-Pettersson, A Clarke, F Samson, et al.

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Showing results (11-20 of 35) with videos related to

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Neuromuscular Disorders : NMD|June 1, 1997

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?B Udd, R Krahe, C Wallgren-Pettersson, et al.

Journal of Medical Genetics|August 1, 1990

Genetics of congenital nemaline myopathy: a study of 10 familiesC Wallgren-Pettersson, H Kääriäinen, J Rapola, et al.

Clinical Dysmorphology|July 12, 2001

Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated childrenH Kääriäinen, C Wallgren-Pettersson, A Clarke, et al.

Journal of the Neurological Sciences|August 1, 1993

Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severityC Wallgren-Pettersson, B Jasani, L G Rosser, et al.

Acta Neurologica Scandinavica|September 2, 1998

High prevalence of Kennedy's disease in Western Finland -- is the syndrome underdiagnosed?B Udd, V Juvonen, L Hakamies, et al.

Neuromuscular Disorders : NMD|March 21, 2001

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathyC A Sewry, S C Brown, K Pelin, et al.

Journal of Neuromuscular Diseases|November 19, 2016

A Large Deletion Affecting TPM3, Causing Severe Nemaline MyopathyK Kiiski, V-L Lehtokari, A Y Manzur, et al.

Neuromuscular Disorders : NMD|January 5, 2000

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathyP Tan, J Briner, E Boltshauser, et al.

Neuromuscular Disorders : NMD|September 27, 2012

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genesK Kiiski, L Laari, V-L Lehtokari, et al.

Journal of Medical Genetics|September 1, 1995

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studiesC Wallgren-Pettersson, A Clarke, F Samson, et al.

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