Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Hannu Somer"'
Publikováno v:
Clinical Genetics. 37:179-187
DNA-analysis with flanking and intragenic markers gave confusing results in 7 out of 74 (9.5%) Finnish families with Duchenne or Becker muscular dystrophy. In five families a sister or maternal aunt of the patient had elevated serum creatine kinase (
Publikováno v:
Clinical Genetics. 28:151-156
Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respect
Autor:
Maarit Tanskanen, Antti Lamminen, Anders Paetau, Tapani Salmi, Perttu J. Lindsberg, Oili Salonen, Hannu Somer, Sari Kiuru-Enari
Publikováno v:
Amyloid. 14:89-95
Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder caused by a G654A or G654T gelsolin mutation, reported from Europe, North America, and Japan. Principal clinical signs are corneal lattice dystrophy, cutis laxa and cranial neu
Autor:
Anna-Elina Lehesjoki, Ibrahim Mahjneh, Anna-Kaisa Anttonen, Hannu Somer, Anders Paetau, Bjarne Udd, Mirja Somer
Publikováno v:
Journal of Neurology. 253:301-306
Marinesco–Sjogren syndrome (MSS) is an autosomal recessive multiorgan disorder showing clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and varying degrees
Autor:
Hannu Somer, Jyriki P. Makelä
Publikováno v:
Military Medicine. 170:806-809
Myotonias are rare disorders characterized by difficulties in skeletal muscle relaxation. Either dominant or recessive modes of inheritance are possible. Underlying gene mutations cause defects in the ion channels of the muscle membranes. Previously
Autor:
Anders Paetau, O. A. Korhola, Hannu Somer, Antti Lamminen, Ibrahim Mahjneh, Peter Hackman, Bjarne Udd
Publikováno v:
Acta Neurologica Scandinavica. 110:87-93
Distal myopathies are characterized clinically bymuscle wasting and weakness predominantly in thedistal muscles of the extremities. For many years,Welander distal myopathy (WDM) has been theonly well defined phenotype which has beenreported mainly i
Autor:
Päivi J. Miettinen, R Sallinen, Hanna Harno, Hannu Somer, Markus Färkkilä, Eija Hämäläinen, Mari A. Kaunisto, J. Vesa, Arto Orpana, M. Wessman, Mikko Kallela, Aarno Palotie
Publikováno v:
neurogenetics. 5:69-73
Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness. The disease is caused by mutations in the P/Q-ty
Autor:
Bjarne Udd, Anders Paetau, Hannu Somer, L.V.B. Anderson, Ibrahim Mahjneh, Henna Haravuori, A. Saarinen
Publikováno v:
Neurology. 61:87-92
Objectives: The authors carried out clinical, histopathologic, immunocytochemical, electrophysiologic, and imaging investigations and molecular genetic analysis in seven patients with distal myopathy belonging to a Finnish family. Results: The diseas
Publikováno v:
European Journal of Neurology. 10:453-456
The authors carried out a clinical, laboratory and muscle computed tomographgy CT follow-up study of 18-21 years on two sisters affected by quadriceps myopathy (QM). The onset in the fourth decade was a weakness in the thighs. During the follow-up st
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 61:565-571
Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder reported worldwide in kindreds with a G654A or G654T gelsolin gene mutation. The clinically characteristic peripheral nerve involvement has been poorly characterized morphologi