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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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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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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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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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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Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

• Authors : Stehlíková, K.; Skálová, D.; Zídková, J.

Subjects: MUSCULAR dystrophy; MUSCLE diseases; GENETIC mutation

• Source: Clinical Genetics. Mar2017, Vol. 91 Issue 3, p463-469. 7p. 1 Chart.

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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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Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3.

• Authors : Senderek, Jan; Garvey, Sean M.; Krieger, Michael

Subjects: MUSCLE diseases; NUCLEAR matrix; GENE mapping

• Source: American Journal of Human Genetics. 4/10/2009, Vol. 84 Issue 4, p511-518. 8p. 1 Color Photograph, 2 Charts, 2 Graphs.

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Reliability and validity of the Turkish version of ABILHAND-Kids’ questionnaire in a group of patients with neuromuscular disorders.

• Authors : Öksüz, Çigdem (AUTHOR); Alemdaroglu, Ipek (AUTHOR); Kilinç, Muhammed (AUTHOR)

Subjects: MOTOR ability; STATISTICAL correlation; CULTURE

• Source: Physiotherapy Theory & Practice. Oct2017, Vol. 33 Issue 10, p780-787. 8p. 4 Charts, 2 Graphs.

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