Search Results

Distal myopathies.

Subjects: MUSCLE diseases; NEMALINE myopathy; NEUROMUSCULAR diseases

• Source: European Journal of Neurology. Oct2002 Supplement S2, Vol. 9, p3-4. 2p.

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Sarcoplasmic body myopathy – a rare hereditary myopathy with characteristic inclusions.

• Authors : Engvall, M.; Åhlberg, G.; Hedberg, B.

Subjects: NEUROMUSCULAR diseases; MUSCULAR atrophy; MUSCLE diseases

• Source: Acta Neurologica Scandinavica. Oct2005, Vol. 112 Issue 4, p223-227. 5p.

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Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.

• Authors : Piñeros-Fernández, Martha Cecilia (AUTHOR); Morte, Beatriz (AUTHOR); García-Giménez, José Luis (AUTHOR)

Subjects: NEUROMUSCULAR diseases; DUAL diagnosis; GENETIC disorder diagnosis

• Source: Neurological Sciences. Apr2024, Vol. 45 Issue 4, p1455-1464. 10p.

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Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.

• Authors : Kesper, K.; Kornblum, C.; Reimann, J.

Subjects: GENES; GENETIC mutation; PATHOLOGY

• Source: Acta Neurologica Scandinavica. Aug2009, Vol. 120 Issue 2, p111-118. 8p. 5 Black and White Photographs, 3 Charts.

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An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1.

• Authors : Mirabella, M.; Christodoulou, K.; Di Giovanni, S.

Subjects: MUSCLE diseases; CHROMOSOMES; INCLUSION body myositisITALY

• Source: Neurological Sciences. Apr2000, Vol. 21 Issue 2, p99-102. 4p. 5 Diagrams, 1 Chart.

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Inclusion body myositis. Genetics, biomarkers and muscle biopsy.

• Authors : Mavroudis, Ioannis (AUTHOR); Petridis, Foivos (AUTHOR); Kazis, Dimitrios (AUTHOR)

Subjects: INCLUSION body myositis; MYOSITIS; GENETICS

• Source: International Journal of Neuroscience. Dec2023, Vol. 133 Issue 11, p1211-1217. 7p.

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Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

• Authors : Winckler, Pablo Brea (AUTHOR); Chwal, Bruna Cristine (AUTHOR); Dos Santos, Marco Antonnio Rocha (AUTHOR)

Subjects: MUSCULAR dystrophy; LIMB-girdle muscular dystrophy; ARTHROGRYPOSISBRAZIL

• Source: Neurological Sciences. Jul2022, Vol. 43 Issue 7, p4473-4481. 9p. 2 Diagrams, 1 Chart, 1 Graph.

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SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.

• Authors : Tasca, G. (AUTHOR); Lattante, S. (AUTHOR); Marangi, G. (AUTHOR)

Subjects: AMYOTROPHIC lateral sclerosis; MUSCLE diseases; MAGNETIC resonance imaging

• Source: European Journal of Neurology. Jul2020, Vol. 27 Issue 7, p1304-1309. 6p. 1 Color Photograph, 1 Black and White Photograph.

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Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci.

• Authors : Rodolico, C.; Toscano, A.; Patitucci, A.

Subjects: MUSCLE diseases; NEUROMUSCULAR diseases; MYOTONIA

• Source: Neurological Sciences. Dec2005, Vol. 26 Issue 5, p303-309. 7p. 3 Charts, 5 Graphs.

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Clinical and genetic characterization of an Italian family with slow-channel syndrome.

• Authors : Angelini, Corrado (AUTHOR); Lispi, Ludovico (AUTHOR); Salvoro, Cecilia (AUTHOR)

Subjects: CONGENITAL myasthenic syndromes; CHOLINERGIC receptors; GENETIC disordersITALY

• Source: Neurological Sciences. Mar2019, Vol. 40 Issue 3, p503-507. 5p. 1 Color Photograph, 1 Diagram, 1 Graph.

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