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2-Dec-2008

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selected for My F1000 Medicine

Browse > Neurological Disorders > Neuromuscular Diseases
Current Top 10 by F1000 Factor / All Time Top 10 by F1000 Factor / Most viewed
(from all journals) / Most viewed
(from specialty journals) / Hidden jewels

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	Exceptional
F1000 Factor 9.0

Confirmation

New Finding

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
Selcen D, Milone M, …, Wieben ED, Engel AG
Ann Neurol 2008 Jul 64(1):71-87 [abstract on PubMed] [related articles] [full text] [order article]

Selected by | Richard Lewis

Evaluated 27 Nov 2008

	Must Read
F1000 Factor 4.8

New Finding

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Cízková A, Stránecký V, …, Houstek J, Kmoch S
Nat Genet 2008 Nov 40(11):1288-90 [abstract on PubMed] [related articles] [full text] [order article]

Selected by | Salvatore Di Mauro / Nereo Bresolin with Dario Ronchi
First evaluation 11 Nov 2008 | Latest evaluation 17 Nov 2008

	Recommended
F1000 Factor 3.0

New Finding

Myosin accumulation and striated muscle myopathy result from the loss of muscle RING finger 1 and 3.
Fielitz J, Kim MS, …, Bassel-Duby R, Olson EN
J Clin Invest 2007 Sep 117(9):2486-95 [abstract on PubMed] [related articles] [FREE full text]

Selected by | Anders Oldfors with Homa Tajsharghi
Evaluated 6 Nov 2008

	Recommended
F1000 Factor 3.0

Hypothesis

Consequences of phosphate-arginine complexes in voltage-gated ion channels.
Green ME
Channels (Austin) 2008 Nov 1 2(6) [abstract on PubMed] [related articles]

Selected by | Robert Ruff
Evaluated 3 Nov 2008

	Recommended
F1000 Factor 3.0

Hypothesis

Oculomotor involvement in myotonic dystrophy type 2.
Ajroud-Driss S, Sufit R, Siddique T, Hain TC
Muscle Nerve 2008 Oct 38(4):1326-9 [abstract on PubMed] [related articles] [full text] [order article]

Selected by | Richard Moxley III with Chad Heatwole
Evaluated 27 Oct 2008

	Recommended
F1000 Factor 3.0

New Finding

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.
Bartoli M, Gicquel E, …, Danos O, Richard I
Hum Mol Genet 2008 May 1 17(9):1214-21 [abstract on PubMed] [related articles] [full text] [order article]

Selected by | Nigel Laing with Gianina Ravenscroft
Evaluated 27 Oct 2008

	Recommended
F1000 Factor 3.0

Hypothesis

New Finding

Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype.
Wenz T, Diaz F, Spiegelman BM, Moraes CT
Cell Metab 2008 Sep 8(3):249-56 [abstract on PubMed] [related articles] [full text] [order article]

Selected by | Michio Hirano
Evaluated 7 Oct 2008

	Must Read
F1000 Factor 6.0

New Finding

Cerebral cortex and the clinical expression of Huntington's disease: complexity and heterogeneity.
Rosas HD, Salat DH, …, Hevelone N, Hersch SM
Brain 2008 Apr 131(Pt 4):1057-68 [abstract on PubMed] [related articles] [full text] [order article]

Selected by | Irene Litvan with Rita Simoes
Evaluated 29 Sep 2008

Must Read

F1000 Factor 6.0

Changes
Clinical Practice

Confirmation

New Finding

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
Zhang X, Chow CY, …, Meisler MH, Li J
Brain 2008 Aug 131(Pt 8):1990-2001 [abstract on PubMed] [related articles] [full text] [order article]

Selected by | Davide Pareyson with Chiara Marchesi
Evaluated 29 Sep 2008

Recommended

F1000 Factor 3.0

Changes
Clinical Practice

Confirmation

New Finding

Lung insufflation capacity in neuromuscular disease.
Bach JR, Mahajan K, …, Goncalves M, Komaroff E
Am J Phys Med Rehabil 2008 Sep 87(9):720-5 [abstract on PubMed] [related articles] [full text] [order article]

Selected by | Anastassios Koumbourlis
Evaluated 26 Sep 2008

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