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Items: 12

1.

A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study.

Fujioka S, Boeve BF, Parisi JE, Tacik P, Aoki N, Strongosky AJ, Baker M, Sanchez-Contreras M, Ross OA, Rademakers R, Sossi V, Dickson DW, Stoessl AJ, Wszolek ZK.

Parkinsonism Relat Disord. 2014 Nov;20(11):1129-34. doi: 10.1016/j.parkreldis.2014.07.014. Epub 2014 Aug 19.

2.

Three families with Perry syndrome from distinct parts of the world.

Tacik P, Fiesel FC, Fujioka S, Ross OA, Pretelt F, CastaƱeda Cardona C, Kidd A, Hlavac M, Raizis A, Okun MS, Traynor S, Strongosky AJ, Springer W, Wszolek ZK.

Parkinsonism Relat Disord. 2014 Aug;20(8):884-8. doi: 10.1016/j.parkreldis.2014.05.004. Epub 2014 May 13.

3.

Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.

Kiferle L, Orsucci D, Mancuso M, Lo Gerfo A, Petrozzi L, Siciliano G, Ceravolo R, Bonuccelli U.

Neurosci Lett. 2013 Nov 27;556:1-4. doi: 10.1016/j.neulet.2013.09.034. Epub 2013 Sep 26. Review.

PMID:
24076137
4.

Early onset Parkinsonism associated with an intronic SOD1 mutation.

Kacem I, Funalot B, Torny F, Lautrette G, Andersen PM, Couratier P.

Amyotroph Lateral Scler. 2012 May;13(3):315-7. doi: 10.3109/17482968.2011.623301. Epub 2012 Jan 3.

PMID:
22214312
5.

Genetic study of an American family with DYT3 dystonia (lubag).

Deng H, Le WD, Jankovic J.

Neurosci Lett. 2008 Dec 26;448(2):180-3. doi: 10.1016/j.neulet.2008.10.049. Epub 2008 Oct 21.

PMID:
18952144
6.

Neurocirculatory and nigrostriatal abnormalities in Parkinson disease from LRRK2 mutation.

Goldstein DS, Imrich R, Peckham E, Holmes C, Lopez G, Crews C, Hardy J, Singleton A, Hallett M.

Neurology. 2007 Oct 16;69(16):1580-4. Epub 2007 Jul 11.

PMID:
17625107
7.

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Baloh RH, Salavaggione E, Milbrandt J, Pestronk A.

Arch Neurol. 2007 Jul;64(7):998-1000.

PMID:
17620490
8.

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

Mancuso M, Filosto M, Oh SJ, DiMauro S.

Arch Neurol. 2004 Nov;61(11):1777-9.

PMID:
15534189
9.

Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.

Lossos A, Reches A, Gal A, Newman JP, Soffer D, Gomori JM, Boher M, Ekstein D, Biran I, Meiner Z, Abramsky O, Rosenmann H.

J Neurol. 2003 Jun;250(6):733-40.

PMID:
12796837
10.

SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion.

O'Hearn E, Holmes SE, Calvert PC, Ross CA, Margolis RL.

Neurology. 2001 Feb 13;56(3):299-303.

PMID:
11171892
11.

A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.

Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, Lynch T, Fahn S, DiMauro S.

Ann Neurol. 2000 Nov;48(5):730-6.

PMID:
11079536
12.

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.

Delisle MB, Murrell JR, Richardson R, Trofatter JA, Rascol O, Soulages X, Mohr M, Calvas P, Ghetti B.

Acta Neuropathol. 1999 Jul;98(1):62-77.

PMID:
10412802
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