What's in the literature?

Research output: Contribution to journalReview article

Abstract

The spectrum of neuromuscular literature that has appeared over the past 3 months is broad, so this review is necessarily selective but hopefully will prove useful. New articles provide additional insight into the genetics and the cognitive aspects of amyotrophic lateral sclerosis, leading to a better understanding of this disorder, which will hopefully translate into more effective treatments over time. There is a useful review on hereditary spastic paraplegia, a disorder that is sufficiently uncommon that most neuromuscular physicians see limited numbers of these patients and so benefit greatly from such reviews. Multifocal motor neuropathy, Guillain-Barré syndrome, and other autoimmune and some nonimmune-mediated neuropathies receive attention with regard to diagnosis and treatment. The links between clinical features and genetics in muscular dystrophies are explored. There is exciting material on enzyme replacement therapy as treatment for Pompe disease. There are also two thought-provoking articles on issues relating to quality of life in neuromuscular diseases.

Original languageEnglish (US)
Pages (from-to)165-172
Number of pages8
JournalJournal of Clinical Neuromuscular Disease
Volume12
Issue number3
DOIs
StatePublished - Mar 1 2011

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Hereditary Spastic Paraplegia
Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Neuromuscular Diseases
Muscular Dystrophies
Amyotrophic Lateral Sclerosis
Therapeutics
Quality of Life
Physicians

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

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title = "What's in the literature?",
abstract = "The spectrum of neuromuscular literature that has appeared over the past 3 months is broad, so this review is necessarily selective but hopefully will prove useful. New articles provide additional insight into the genetics and the cognitive aspects of amyotrophic lateral sclerosis, leading to a better understanding of this disorder, which will hopefully translate into more effective treatments over time. There is a useful review on hereditary spastic paraplegia, a disorder that is sufficiently uncommon that most neuromuscular physicians see limited numbers of these patients and so benefit greatly from such reviews. Multifocal motor neuropathy, Guillain-Barr{\'e} syndrome, and other autoimmune and some nonimmune-mediated neuropathies receive attention with regard to diagnosis and treatment. The links between clinical features and genetics in muscular dystrophies are explored. There is exciting material on enzyme replacement therapy as treatment for Pompe disease. There are also two thought-provoking articles on issues relating to quality of life in neuromuscular diseases.",
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What's in the literature? / Simmons, Zachary.

In: Journal of Clinical Neuromuscular Disease, Vol. 12, No. 3, 01.03.2011, p. 165-172.

Research output: Contribution to journalReview article

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