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Items: 1 to 50 of 95

1.

Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants.

Sujkowski A, Rainier S, Fink JK, Wessells RJ.

PLoS One. 2015 Dec 15;10(12):e0145356. doi: 10.1371/journal.pone.0145356. eCollection 2015.

2.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM.

J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5.

PMID:
25480986
3.

Hereditary spastic paraplegia: clinical principles and genetic advances.

Fink JK.

Semin Neurol. 2014 Jul;34(3):293-305. doi: 10.1055/s-0034-1386767. Epub 2014 Sep 5. Review.

PMID:
25192507
4.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR.

Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24.

5.

Further studies toward a mouse model for biochemical assessment of neuropathic potential of organophosphorus compounds.

Makhaeva GF, Rudakova EV, Hein ND, Serebryakova OG, Kovaleva NV, Boltneva NP, Fink JK, Richardson RJ.

J Appl Toxicol. 2014 Dec;34(12):1426-35. doi: 10.1002/jat.2977. Epub 2014 Jan 7.

6.

Morphea and Parry-Romberg syndrome associated with a mixed movement disorder.

Walker RH, Fink JK.

Parkinsonism Relat Disord. 2013 Dec;19(12):1169-70. doi: 10.1016/j.parkreldis.2013.07.025. Epub 2013 Aug 20. No abstract available.

7.

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Fink JK.

Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. Review.

8.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG.

Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.

9.

Rare treatable neurologic diseases.

Lorincz MT, Fink JK.

Semin Neurol. 2012 Nov;32(5):489-90. doi: 10.1055/s-0033-1334480. Epub 2013 May 15. No abstract available.

PMID:
23677655
10.

Neuropathy target esterase (NTE): overview and future.

Richardson RJ, Hein ND, Wijeyesakere SJ, Fink JK, Makhaeva GF.

Chem Biol Interact. 2013 Mar 25;203(1):238-44. doi: 10.1016/j.cbi.2012.10.024. Epub 2012 Dec 3. Review.

PMID:
23220002
11.

Whole-genome sequencing for optimized patient management.

Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA.

Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243.

12.

Call for participation in the neurogenetics consortium within the Human Variome Project.

Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ.

Neurogenetics. 2011 Aug;12(3):169-73. doi: 10.1007/s10048-011-0287-4. Epub 2011 Jun 1.

PMID:
21630033
13.

Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.

Rainier S, Albers JW, Dyck PJ, Eldevik OP, Wilcock S, Richardson RJ, Fink JK.

Muscle Nerve. 2011 Jan;43(1):19-25. doi: 10.1002/mus.21777.

14.

Motor neuron disease due to neuropathy target esterase mutation: enzyme analysis of fibroblasts from human subjects yields insights into pathogenesis.

Hein ND, Rainier SR, Richardson RJ, Fink JK.

Toxicol Lett. 2010 Nov 10;199(1):1-5. doi: 10.1016/j.toxlet.2010.06.020. Epub 2010 Sep 17.

15.

Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties.

Hein ND, Stuckey JA, Rainier SR, Fink JK, Richardson RJ.

Toxicol Lett. 2010 Jul 1;196(2):67-73. doi: 10.1016/j.toxlet.2010.03.1120. Epub 2010 Apr 9.

16.

Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin II. The denture cream is a primary source of excessive zinc.

Hedera P, Peltier A, Fink JK, Wilcock S, London Z, Brewer GJ.

Neurotoxicology. 2009 Nov;30(6):996-9. doi: 10.1016/j.neuro.2009.08.008. Epub 2009 Sep 2.

PMID:
19732792
17.

Treatment of Wilson's disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine.

Brewer GJ, Askari F, Dick RB, Sitterly J, Fink JK, Carlson M, Kluin KJ, Lorincz MT.

Transl Res. 2009 Aug;154(2):70-7. doi: 10.1016/j.trsl.2009.05.002. Epub 2009 Jun 6.

PMID:
19595438
18.

Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

Albin RL, Koeppe RA, Rainier S, Fink JK.

J Neurogenet. 2008;22(4):289-94. doi: 10.1080/01677060802337307.

19.

Sporadically occurring neurologic disease: HSP genes and apparently sporadic spastic paraplegia.

Fink JK.

Neurology. 2008 Nov 4;71(19):1468-9. doi: 10.1212/01.wnl.0000334294.99658.2d. No abstract available.

PMID:
18981367
20.

HEREDITARY MYELOPATHIES.

Fink JK.

Continuum (N Y). 2008 Jun 1;14(3):58.

21.

Neuropathy target esterase gene mutations cause motor neuron disease.

Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK.

Am J Hum Genet. 2008 Mar;82(3):780-5. doi: 10.1016/j.ajhg.2007.12.018. Epub 2008 Feb 28.

22.

Systematic isolation and characterization of cDNAs encoding AAA proteins from human brain.

Zhao X, Hedera P, Fink JK.

Bratisl Lek Listy. 2006;107(11-12):418-21.

PMID:
17425157
23.

Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.

Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink JK, Tankanow R, Dick RB, Sitterly J.

Arch Neurol. 2006 Apr;63(4):521-7.

PMID:
16606763
24.

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

Rainier S, Sher C, Reish O, Thomas D, Fink JK.

Arch Neurol. 2006 Mar;63(3):445-7.

PMID:
16533974
25.

Hereditary spastic paraplegia.

Fink JK.

Curr Neurol Neurosci Rep. 2006 Jan;6(1):65-76. Review.

PMID:
16469273
26.

Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.

Lorincz MT, Rainier S, Thomas D, Fink JK.

Arch Neurol. 2005 Sep;62(9):1459-63.

PMID:
16157755
27.

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia.

Hedera P, Eldevik OP, Maly P, Rainier S, Fink JK.

Neuroradiology. 2005 Oct;47(10):730-4. Epub 2005 Sep 6.

28.

Porphyric neuropathy.

Albers JW, Fink JK.

Muscle Nerve. 2004 Oct;30(4):410-22. Review.

29.

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG.

Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20.

30.

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK.

Arch Neurol. 2004 Jul;61(7):1025-9.

PMID:
15262732
31.

Hereditary spastic paraplegia: spastin phenotype and function.

Fink JK, Rainier S.

Arch Neurol. 2004 Jun;61(6):830-3. Review. No abstract available.

PMID:
15210518
32.

Advances in the hereditary spastic paraplegias.

Fink JK.

Exp Neurol. 2003 Nov;184 Suppl 1:S106-10. Review.

PMID:
14597333
33.

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK.

Am J Hum Genet. 2003 Oct;73(4):967-71. Epub 2003 Sep 23.

34.

The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.

Hedera P, Petty EM, Bui MR, Blaivas M, Fink JK.

Arch Neurol. 2003 Sep;60(9):1321-5.

PMID:
12975303
36.

The hereditary spastic paraplegias: nine genes and counting.

Fink JK.

Arch Neurol. 2003 Aug;60(8):1045-9. Review.

PMID:
12925358
37.

Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy.

Brewer GJ, Hedera P, Kluin KJ, Carlson M, Askari F, Dick RB, Sitterly J, Fink JK.

Arch Neurol. 2003 Mar;60(3):379-85.

PMID:
12633149
38.

Hereditary spastic paraplegia.

Fink JK.

Neurol Clin. 2002 Aug;20(3):711-26. Review.

PMID:
12432827
39.

Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.

Fink JK, Hedera P.

Semin Neurol. 1999;19(3):301-9. Review.

PMID:
12194386
40.

Diagnosis and treatment of Wilson's disease.

Brewer GJ, Fink JK, Hedera P.

Semin Neurol. 1999;19(3):261-70. Review.

PMID:
12194382
41.

Hereditary spastic paraplegia: the pace quickens.

Fink JK.

Ann Neurol. 2002 Jun;51(6):669-72. No abstract available.

42.

White matter changes in Wilson disease.

Hedera P, Brewer GJ, Fink JK.

Arch Neurol. 2002 May;59(5):866-7. No abstract available.

PMID:
12020274
43.

Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.

Hedera P, Rainier S, Zhao XP, Schalling M, Lindblad K, Yuan QP, Ikeuchi T, Trobe J, Wald JJ, Eldevik OP, Kluin K, Fink JK.

Neurology. 2002 Feb 12;58(3):411-6.

PMID:
11839840
44.

Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.

Hedera P, Alvarado D, Beydoun A, Fink JK.

Ann Neurol. 2002 Jan;51(1):45-50.

45.

Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM.

Rainier S, Hedera P, Alvarado D, Zhao X, Kleopa KA, Heiman-Patterson T, Fink JK.

J Med Genet. 2001 Nov;38(11):E39. No abstract available.

46.

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK.

Nat Genet. 2001 Nov;29(3):326-31.

PMID:
11685207
47.
49.

Prenatal diagnosis of hereditary spastic paraplegia.

Hedera P, Williamson JA, Rainier S, Alvarado D, Tukel T, Apak M, Fink JK.

Prenat Diagn. 2001 Mar;21(3):202-6.

50.

Treatment of Wilson's disease with zinc XVI: treatment during the pediatric years.

Brewer GJ, Dick RD, Johnson VD, Fink JK, Kluin KJ, Daniels S.

J Lab Clin Med. 2001 Mar;137(3):191-8.

PMID:
11241029

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