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Baltic Association of Neuropathologists (BAN) - the first decade.
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 2, p. 166
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- Publication type:
- Article
Report Neuro -- Course in Neuropathology, July 2011, Kaunas, Lithuania.
- Published in:
- Clinical Neuropathology, 2011, v. 30, n. 6, p. 337
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- Publication type:
- Article
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
- Published in:
- 2003
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- Publication type:
- journal article
Ultrastructural Study of the Retina in Late Infantile Metachromatic Leukodystrophy.
- Published in:
- Ophthalmic Research, 1992, v. 24, n. 2, p. 103, doi. 10.1159/000267154
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- Publication type:
- Article
ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/462592
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- Publication type:
- Article
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837
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- Publication type:
- Article
Novel [gamma]-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.
- Published in:
- 2014
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- Publication type:
- Journal Article
Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 1, p. 144, doi. 10.1002/mus.23981
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- Publication type:
- Article
Congenital myopathies at their molecular dawning.
- Published in:
- Muscle & Nerve, 2003, v. 27, n. 5, p. 527, doi. 10.1002/mus.10322
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- Publication type:
- Article
Spheroid body myopathy revisited.
- Published in:
- 1997
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- Publication type:
- journal article
Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin.
- Published in:
- 1997
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- Publication type:
- journal article
Familial mixed congenital myopathy with rigid spine phenotype.
- Published in:
- 1997
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- Publication type:
- journal article
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 2, p. 143, doi. 10.1007/s00415-004-0289-3
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- Publication type:
- Article
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226
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- Publication type:
- Article
Th2- M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 7, p. 952, doi. 10.1111/nan.12231
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- Publication type:
- Article
Workshop Report.
- Published in:
- Neuropathology & Applied Neurobiology, 1997, v. 23, n. 3, p. 262, doi. 10.1111/j.1365-2990.1997.tb01210.x
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- Publication type:
- Article
Prophylactic Implantable Cardioverter Defibrillator Placement in a Sporadic Desmin Related Myopathy and Cardiomyopathy.
- Published in:
- Pacing & Clinical Electrophysiology, 2004, v. 27, n. 4, p. 559, doi. 10.1111/j.1540-8159.2004.00484.x
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- Publication type:
- Article
Primary desminopathies.
- Published in:
- Journal of Cellular & Molecular Medicine, 2007, v. 11, n. 3, p. 416, doi. 10.1111/j.1582-4934.2007.00057.x
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- Publication type:
- Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
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- Publication type:
- Article
McLeod myopathy revisited: more neurogenic and less benign.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3285, doi. 10.1093/brain/awm269
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- Publication type:
- Article
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
- Published in:
- Acta Neuropathologica, 2005, v. 109, n. 4, p. 411, doi. 10.1007/s00401-005-0980-1
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- Publication type:
- Article
Hamartoma of the triceps surae muscle.
- Published in:
- Acta Neuropathologica, 1997, v. 94, n. 1, p. 91, doi. 10.1007/s004010050677
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- Publication type:
- Article
Immunohistochemistry of primary central nervous system malignant rhabdoid tumors: report of five cases and review of the literature.
- Published in:
- Acta Neuropathologica, 1996, v. 91, n. 6, p. 578, doi. 10.1007/s004010050470
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- Publication type:
- Article
Autophagic vacuolar myopathy is a common feature of CLN3 disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 11, p. 1385, doi. 10.1002/acn3.662
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- Publication type:
- Article
Meeting report of the 20th International Congress of Neuropathology (ICN) 2023 in Berlin.
- Published in:
- Brain Pathology, 2024, v. 34, n. 2, p. 1, doi. 10.1111/bpa.13249
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- Publication type:
- Article
Recent data and developments in myositis.
- Published in:
- Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12966
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- Publication type:
- Article
Actinopathies and Myosinopathies.
- Published in:
- Brain Pathology, 2009, v. 19, n. 3, p. 516, doi. 10.1111/j.1750-3639.2009.00287.x
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- Publication type:
- Article
Introduction.
- Published in:
- Brain Pathology, 2009, v. 19, n. 3, p. 480, doi. 10.1111/j.1750-3639.2009.00291.x
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- Publication type:
- Article
Introduction.
- Published in:
- Brain Pathology, 2004, v. 14, n. 1, p. 59, doi. 10.1111/j.1750-3639.2004.tb00498.x
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- Publication type:
- Article
Current State of Clinical and Morphological Features in Human NCL.
- Published in:
- Brain Pathology, 2004, v. 14, n. 1, p. 61, doi. 10.1111/j.1750-3639.2004.tb00499.x
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- Publication type:
- Article
Introduction: Recent Advances in Hereditary Neuromuscular Diseases of Childhood.
- Published in:
- Brain Pathology, 2001, v. 11, n. 2, p. 190, doi. 10.1111/j.1750-3639.2001.tb00391.x
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- Publication type:
- Article
Congenital Myopathies.
- Published in:
- Brain Pathology, 2001, v. 11, n. 2, p. 206, doi. 10.1111/j.1750-3639.2001.tb00393.x
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- Publication type:
- Article
The 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) - NCL 2000 20 - 24 September, 2000 Oxford, United Kingdom.
- Published in:
- Brain Pathology, 2001, v. 11, n. 2, p. 259, doi. 10.1111/j.1750-3639.2001.tb00397.x
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- Publication type:
- Article
7th International Congress on Neuronal Ceroid-Lipofuscinoses (NCL-98) 13-16 June 1998, Dallas, USA.
- Published in:
- Brain Pathology, 1998, v. 8, n. 4, p. 809, doi. 10.1111/j.1750-3639.1998.tb00202.x
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- Publication type:
- Article
Lysosomal and Peroxisomal Disorders. Recent Advances: Introduction.
- Published in:
- Brain Pathology, 1998, v. 8, n. 1, p. 73, doi. 10.1111/j.1750-3639.1998.tb00137.x
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- Publication type:
- Article
The Neuronal Ceroid-Lipofuscinoses. Recent Advances.
- Published in:
- Brain Pathology, 1998, v. 8, n. 1, p. 151, doi. 10.1111/j.1750-3639.1998.tb00142.x
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- Publication type:
- Article
Neuronal Ceroid-Lipofuscinosis - Late-Infantile or Jansky-Bielschowsky Type - Revisited.
- Published in:
- Brain Pathology, 1996, v. 6, n. 3, p. 225, doi. 10.1111/j.1750-3639.1996.tb00850.x
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- Publication type:
- Article
6th International Congress on Neuronal-Ceroid-Lipofuscinosis (NCL-96), June 8-11, 1996, Gustavelund, Finland.
- Published in:
- Brain Pathology, 1996, v. 6, n. 4, p. 525, doi. 10.1111/j.1750-3639.1996.tb00882.x
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- Publication type:
- Article
Workshop 6: Immunohistochemistry of Proteins in Neuromuscular Disorders.
- Published in:
- Brain Pathology, 1994, v. 4, n. 4, p. 321, doi. 10.1111/j.1750-3639.1994.tb00915.x
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- Publication type:
- Article
MEETING REPORT.
- Published in:
- Brain Pathology, 1994, v. 4, n. 2, p. 199, doi. 10.1111/j.1750-3639.1994.tb00832.x
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- Publication type:
- Article
Desmin-related myopathy with mallory bodylike inclusions is caused by mutations of the selenoprotein N gene (Accession numbers are listed in the <APPR HREF="app1">Appendix</APPR> on the last page of this article.).
- Published in:
- Annals of Neurology, 2004, v. 55, n. 5, p. 676
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- Publication type:
- Article
Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Congenital Myopathies in the New Millennium.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 2, p. 94, doi. 10.1177/08830738050200020201
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- Publication type:
- Article
Progress in Desmin-Related Myopathies.
- Published in:
- Journal of Child Neurology, 2000, v. 15, n. 9, p. 565
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- Publication type:
- Article
Congenital Myopathies: The Current Status.
- Published in:
- Journal of Child Neurology, 1999, v. 14, n. 1, p. 30
- By:
- Publication type:
- Article
Infantile Intranuclear Rod Myopathy.
- Published in:
- Journal of Child Neurology, 1997, v. 12, n. 1, p. 22
- By:
- Publication type:
- Article
Topical Review: The Neuronal Ceroid-Lipofuscinoses.
- Published in:
- Journal of Child Neurology, 1995, v. 10, n. 6, p. 424, doi. 10.1177/088307389501000602
- By:
- Publication type:
- Article
Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy.
- Published in:
- Journal of Child Neurology, 1993, v. 8, n. 2, p. 171, doi. 10.1177/088307389300800211
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- Publication type:
- Article
Neonatal Form of Nemaline Myopathy, Muscle Immaturity, and a Microvascular Injury.
- Published in:
- Journal of Child Neurology, 1990, v. 5, n. 2, p. 122, doi. 10.1177/088307389000500209
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- Publication type:
- Article