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Results: 1 to 20 of 22

1.

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG.

J Neuropathol Exp Neurol. 2014 May;73(5):425-41. doi: 10.1097/NEN.0000000000000065.

PMID:
24709677
[PubMed - indexed for MEDLINE]
2.

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB.

Genet Med. 2014 Mar 20. doi: 10.1038/gim.2014.22. [Epub ahead of print]

PMID:
24651605
[PubMed - as supplied by publisher]
3.

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S.

Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31.

PMID:
19720722
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent.

Wu CY, Gómez-Curet I, Funanage VL, Scavina M, Wang W.

BMC Cell Biol. 2009 May 16;10:40. doi: 10.1186/1471-2121-10-40.

PMID:
19445707
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG.

Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29.

PMID:
19181672
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

Gómez-Curet I, Robinson KG, Funanage VL, Crawford TO, Scavina M, Wang W.

Neurogenetics. 2007 Nov;8(4):271-8. Epub 2007 Jul 24. Erratum in: Neurogenetics. 2009 Apr;10(2):171-2.

PMID:
17647030
[PubMed - indexed for MEDLINE]
7.

Design and testing of a functional arm orthosis in patients with neuromuscular diseases.

Rahman T, Sample W, Seliktar R, Scavina MT, Clark AL, Moran K, Alexander MA.

IEEE Trans Neural Syst Rehabil Eng. 2007 Jun;15(2):244-51.

PMID:
17601194
[PubMed - indexed for MEDLINE]
8.

Passive exoskeletons for assisting limb movement.

Rahman T, Sample W, Jayakumar S, King MM, Wee JY, Seliktar R, Alexander M, Scavina M, Clark A.

J Rehabil Res Dev. 2006 Aug-Sep;43(5):583-90.

PMID:
17123200
[PubMed - indexed for MEDLINE]
Free Article
9.

Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet.

Nagai MK, Chan G, Guille JT, Kumar SJ, Scavina M, Mackenzie WG.

J Pediatr Orthop. 2006 Jul-Aug;26(4):438-43.

PMID:
16791058
[PubMed - indexed for MEDLINE]
10.

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.

Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR.

Ann Neurol. 2006 Feb;59(2):358-64.

PMID:
16437560
[PubMed - indexed for MEDLINE]
11.

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death.

Wang W, Dimatteo D, Funanage VL, Scavina M.

Mol Genet Metab. 2005 May;85(1):38-45. Epub 2005 Feb 16.

PMID:
15862279
[PubMed - indexed for MEDLINE]
12.

Correction of cavovarus foot deformity in Charcot-Marie-Tooth disease.

Azmaipairashvili Z, Riddle EC, Scavina M, Kumar SJ.

J Pediatr Orthop. 2005 May-Jun;25(3):360-5.

PMID:
15832156
[PubMed - indexed for MEDLINE]
13.

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

Doyle DA, Gonzalez I, Thomas B, Scavina M.

J Pediatr. 2004 Aug;145(2):190-3.

PMID:
15289765
[PubMed - indexed for MEDLINE]
14.

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.

Ann Neurol. 2002 Feb;51(2):190-201.

PMID:
11835375
[PubMed - indexed for MEDLINE]
15.

Towards the control of a powered orthosis for people with muscular dystrophy.

Rahman T, Ramanathan R, Stroud S, Sample W, Seliktar R, Harwin W, Alexander M, Scavina M.

Proc Inst Mech Eng H. 2001;215(3):267-74.

PMID:
11436269
[PubMed - indexed for MEDLINE]
16.

A body-powered functional upper limb orthosis.

Rahman T, Sample W, Seliktar R, Alexander M, Scavina M.

J Rehabil Res Dev. 2000 Nov-Dec;37(6):675-80.

PMID:
11321003
[PubMed - indexed for MEDLINE]
17.

Autosomal dominant juvenile amyotrophic lateral sclerosis.

Rabin BA, Griffin JW, Crain BJ, Scavina M, Chance PF, Cornblath DR.

Brain. 1999 Aug;122 ( Pt 8):1539-50.

PMID:
10430837
[PubMed - indexed for MEDLINE]
Free Article
18.

MR imaging findings in children with merosin-deficient congenital muscular dystrophy.

Caro PA, Scavina M, Hoffman E, Pegoraro E, Marks HG.

AJNR Am J Neuroradiol. 1999 Feb;20(2):324-6.

PMID:
10094364
[PubMed - indexed for MEDLINE]
Free Article
19.

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP.

Neurology. 1998 Jul;51(1):101-10.

PMID:
9674786
[PubMed - indexed for MEDLINE]
20.

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR.

Am J Hum Genet. 1998 Mar;62(3):633-40.

PMID:
9497266
[PubMed - indexed for MEDLINE]
Free PMC Article

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