PMC Links for OMIM (Select 158600) - PMC - NCBI

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Items: 7

Select item 33855131.

A Cytoplasmic Dynein Tail Mutation Impairs Motor Processivity

Kassandra M. Ori-McKenney, Jing Xu, Steven P. Gross, Richard B. Vallee

Nat Cell Biol. Author manuscript; available in PMC 2012 Jun 28.

Published in final edited form as: Nat Cell Biol. 2010 Dec; 12(12): 1228–1234. Published online 2010 Nov 21. doi: 10.1038/ncb2127

PMCID:: PMC3385513

Abstract Article PDF–1.6M

Select item 33595822.

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

M.B. Harms, K.M. Ori-McKenney, M. Scoto, E.P. Tuck, S. Bell, D. Ma, S. Masi, P. Allred, M. Al-Lozi, M.M. Reilly, L.J. Miller, A. Jani-Acsadi, A. Pestronk, M.E. Shy, F. Muntoni, R.B. Vallee, R.H. Baloh

Neurology. 2012 May 29; 78(22): 1714–1720. doi: 10.1212/WNL.0b013e3182556c05

PMCID:: PMC3359582

Abstract Article PDF–698K

Select item 31551643.

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury-Ecob, Sian Ellard

Am J Hum Genet. 2011 Aug 12; 89(2): 308–312. doi: 10.1016/j.ajhg.2011.07.002

PMCID:: PMC3155164

Abstract Article PDF–154K

Select item 29184784.

Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32

M.B. Harms, P. Allred, R. Gardner, Jr., J.A. Fernandes Filho, J. Florence, A. Pestronk, M. Al-Lozi, R.H. Baloh

Neurology. 2010 Aug 10; 75(6): 539–546. doi: 10.1212/WNL.0b013e3181ec800c

PMCID:: PMC2918478

Abstract Article PDF–2.2M

Select item 19182295.

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

S. Rudnik-Schöneborn, B. Wirth, K. Zerres

Am J Hum Genet. 1994 Jul; 55(1): 112–119.

PMCID:: PMC1918229

Summary Page Browse PDF–1.3M

Select item 18446996.

Kugelberg-Welander Syndrome (Hereditary Proximal Spinal Muscular Atrophy)

J. M. Garvie, A. L. Woolf

Br Med J. 1966 Jun 11; 1(5501): 1458–1461. doi: 10.1136/bmj.1.5501.1458

PMCID:: PMC1844699

Summary Page Browse PDF–1.4M

Select item 10494777.

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.

I Hausmanowa-Petrusewicz, J Zaremba, J Borkowska

J Med Genet. 1985 Oct; 22(5): 350–353. doi: 10.1136/jmg.22.5.350

PMCID:: PMC1049477

Summary Page Browse PDF–507K

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PMC Links for OMIM (Select 158600) (7)
PMC
Mus musculus mitogen-activated protein kinase kinase 4 (Map2k4), transcript vari...
Mus musculus mitogen-activated protein kinase kinase 4 (Map2k4), transcript variant 4, mRNA
gi|939699103|ref|NM_001316369.1|

Nucleotide

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