Search filters

List of works by Sanna Huovinen

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

scientific article published on 08 April 2019

An unusual phenotype of late-onset desminopathy.

scientific article

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

scientific article published on 06 March 2019

Cranioplasty with Adipose-Derived Stem Cells, Beta-Tricalcium Phosphate Granules and Supporting Mesh: Six-Year Clinical Follow-Up Results

scientific article published on 15 May 2017

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.

scientific article published on 5 February 2016

Diazoxide may protect endothelial glycocalyx integrity during coronary artery bypass grafting

scientific article published on 31 August 2012

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

scientific article

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

scientific article published on 01 August 2011

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

scientific article published on 20 December 2018

Expression of multiple nebulin isoforms in human skeletal muscle and brain.

scientific article published on 31 August 2012

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

scientific article

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

scientific article

Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy

scientific article published on 23 June 2017

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy

scientific article published on 01 January 2019

Late-onset lower motor neuronopathy: a new autosomal dominant disorder

scientific article published on 29 June 2011

Late-onset spinal motor neuronopathy - a common form of dominant SMA.

scientific article published on 26 November 2013

Length of prostate biopsies is not necessarily compromised by pooling multiple cores in one paraffin block: an observational study

scientific article published on 8 March 2015

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

scientific article

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

scientific article

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype

scientific article published on 22 June 2010

Myxoinflammatory fibroblastic sarcoma of the nose: First reported case at an unusual location (nasal dorsum), with a review of the literature

scientific article published on March 2016

No cardiomyopathy in X-linked myopathy with excessive autophagy.

scientific article published on 17 March 2015

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers

scientific article published on 28 January 2010

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

scientific article published on 4 June 2015

Pediatric Cushing's disease due to pituitary hyperplasia

scientific article published on 01 January 2011

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

scientific article published on 04 December 2018

The complexity of titin splicing pattern in human adult skeletal muscles

scientific article published on 29 March 2018

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy ⬇️

scientific article published on August 1, 2010

Paulina is supported by:

About Paulina

Help