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  1. No Access

    Article

    Novel splice site CACNA1A mutation causing episodic ataxia type 2

    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 dis...

    M. A. Kaunisto, H. Harno, M. Kallela, H. Somer, R. Sallinen, E. Hämäläinen… in Neurogenetics (2004)

  2. Article

    Erratum to: Axial myopathy — an unrecognised entity

    Ibrahim Mahjneh, G. Marconi, A. Paetau, A. Saarinen, T. Salmi… in Journal of Neurology (2002)

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  3. No Access

    Article

    Axial myopathy – an unrecognised entity

    Axial myopathy (AM) is a rare neuromuscular disorder characterised by selective involvement of the spinal muscles with a bent spine and/or droo** head as leading clinical features. We here report the result...

    I. Mahjneh, G. Marconi, A. Paetau, A. Saarinen, T. Salmi, H. Somer in Journal of Neurology (2002)

  4. No Access

    Article

    MRI of the brain in muscle-eye-brain (MEB) disease

    Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital ...

    L. Valanne, H. Pihko, K. Katevuo, P. Karttunen, H. Somer, P. Santavuori in Neuroradiology (1994)

  5. No Access

    Chapter

    Polymerization of Gelsolin Variant Fragment in Tissue Causes Familial Amyloidosis, Finnish Type (FAF)

    Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of systemic amyloidosis with progressive cranial neuropathy and lattice corneal dystrophy as principal clinical manifestations. We have s...

    M. Haltia, J. Ghiso, F. Prelli, E. Levy, G. Gallo, S. Kiuru… in Amyloid and Amyloidosis 1990 (1991)

  6. No Access

    Chapter

    Familial Amyloidosis, Finnish Type

    Familial amyloidosis, Finnish type (FAF), previously also known as FAP IV is an autosomal dominant disorder with extracellular deposition of amyloid in several tissues. Neurological examination revealed periph...

    S. Kiuru, A-M. Seppäläinen, M. Haltia, H. Somer, O. Valle… in Amyloid and Amyloidosis 1990 (1991)

  7. No Access

    Chapter

    Biochemical indicators of ischaemic brain damage

    Laboratory methods such as lactate and pyruvate measurements and various serum enzyme tests have been in routine clinical use to reveal acute ischaemic injury of the heart or the skeletal muscle. The same enzy...

    H. Somer, R. O. Roine in Molecular Basis of Neurological Disorders and Their Treatment (1991)