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Items: 35

1.

Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.

Qiang L, Piermarini E, Muralidharan H, Yu W, Leo L, Hennessy LE, Fernandes S, Connors T, Yates PL, Swift M, Zholudeva LV, Lane MA, Morfini G, Alexander GM, Heiman-Patterson TD, Baas PW.

Hum Mol Genet. 2019 Apr 1;28(7):1136-1152. doi: 10.1093/hmg/ddy419.

2.

Understanding the use of NIV in ALS: results of an international ALS specialist survey.

Heiman-Patterson TD, Cudkowicz ME, De Carvalho M, Genge A, Hardiman O, Jackson CE, Lechtzin N, Mitsumoto H, Silani V, Andrews JA, Chen D, Kulke S, Rudnicki SA, van den Berg LH.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):331-341. doi: 10.1080/21678421.2018.1457058. Epub 2018 Apr 16.

PMID:
29661084
3.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

4.

Primary Lateral Sclerosis and Early Upper Motor Neuron Disease: Characteristics of a Cross-Sectional Population.

Fournier CN, Murphy A, Loci L, Mitsumoto H, Lomen-Hoerth C, Kisanuki Y, Simmons Z, Maragakis NJ, McVey AL, Al-Lahham T, Heiman-Patterson TD, Andrews J, McDonnell E, Cudkowicz M, Atassi N.

J Clin Neuromuscul Dis. 2016 Mar;17(3):99-105. doi: 10.1097/CND.0000000000000102.

5.

Genetic background effects on disease onset and lifespan of the mutant dynactin p150Glued mouse model of motor neuron disease.

Heiman-Patterson TD, Blankenhorn EP, Sher RB, Jiang J, Welsh P, Dixon MC, Jeffrey JI, Wong P, Cox GA, Alexander GM.

PLoS One. 2015 Mar 12;10(3):e0117848. doi: 10.1371/journal.pone.0117848. eCollection 2015.

6.

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T.

Neurogenetics. 2015 Jan;16(1):1-9. doi: 10.1007/s10048-014-0421-1. Epub 2014 Sep 6.

7.

A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis.

Sher RB, Heiman-Patterson TD, Blankenhorn EA, Jiang J, Alexander G, Deitch JS, Cox GA.

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Dec;15(7-8):588-600. doi: 10.3109/21678421.2014.932381. Epub 2014 Jul 10.

PMID:
25008789
8.

Phenotype of transgenic mice carrying a very low copy number of the mutant human G93A superoxide dismutase-1 gene associated with amyotrophic lateral sclerosis.

Deitch JS, Alexander GM, Bensinger A, Yang S, Jiang JT, Heiman-Patterson TD.

PLoS One. 2014 Jun 19;9(6):e99879. doi: 10.1371/journal.pone.0099879. eCollection 2014.

9.

Effect of genetic background on phenotype variability in transgenic mouse models of amyotrophic lateral sclerosis: a window of opportunity in the search for genetic modifiers.

Heiman-Patterson TD, Sher RB, Blankenhorn EA, Alexander G, Deitch JS, Kunst CB, Maragakis N, Cox G.

Amyotroph Lateral Scler. 2011 Mar;12(2):79-86. doi: 10.3109/17482968.2010.550626. Epub 2011 Jan 17. Review.

PMID:
21241159
10.

The ALSSQOL: balancing physical and nonphysical factors in assessing quality of life in ALS.

Simmons Z, Felgoise SH, Bremer BA, Walsh SM, Hufford DJ, Bromberg MB, David W, Forshew DA, Heiman-Patterson TD, Lai EC, McCluskey L.

Neurology. 2006 Nov 14;67(9):1659-64.

PMID:
17101900
11.

NIPPV: a treatment for ALS whose time has come.

Heiman-Patterson TD, Miller RG.

Neurology. 2006 Sep 12;67(5):736-7. No abstract available.

PMID:
16966530
12.

Background and gender effects on survival in the TgN(SOD1-G93A)1Gur mouse model of ALS.

Heiman-Patterson TD, Deitch JS, Blankenhorn EP, Erwin KL, Perreault MJ, Alexander BK, Byers N, Toman I, Alexander GM.

J Neurol Sci. 2005 Sep 15;236(1-2):1-7.

PMID:
16024047
13.

Effect of transgene copy number on survival in the G93A SOD1 transgenic mouse model of ALS.

Alexander GM, Erwin KL, Byers N, Deitch JS, Augelli BJ, Blankenhorn EP, Heiman-Patterson TD.

Brain Res Mol Brain Res. 2004 Nov 4;130(1-2):7-15.

PMID:
15519671
14.

A randomized, placebo-controlled trial of topiramate in amyotrophic lateral sclerosis.

Cudkowicz ME, Shefner JM, Schoenfeld DA, Brown RH Jr, Johnson H, Qureshi M, Jacobs M, Rothstein JD, Appel SH, Pascuzzi RM, Heiman-Patterson TD, Donofrio PD, David WS, Russell JA, Tandan R, Pioro EP, Felice KJ, Rosenfeld J, Mandler RN, Sachs GM, Bradley WG, Raynor EM, Baquis GD, Belsh JM, Novella S, Goldstein J, Hulihan J; Northeast ALS Consortium.

Neurology. 2003 Aug 26;61(4):456-64.

PMID:
12939417
15.

GLT-1 glutamate transporter levels are unchanged in mice expressing G93A human mutant SOD1.

Deitch JS, Alexander GM, Del Valle L, Heiman-Patterson TD.

J Neurol Sci. 2002 Jan 15;193(2):117-26.

PMID:
11790392
16.

Patch clamp studies of the thr1313met mutant sodium channel causing paramyotonia congenita.

Boulos PT, Heiman-Patterson TD, Alexander GM, Tahmoush AJ.

Muscle Nerve. 2000 Nov;23(11):1736-47.

PMID:
11054753
17.

Elevated cortical extracellular fluid glutamate in transgenic mice expressing human mutant (G93A) Cu/Zn superoxide dismutase.

Alexander GM, Deitch JS, Seeburger JL, Del Valle L, Heiman-Patterson TD.

J Neurochem. 2000 Apr;74(4):1666-73.

18.

Biochemical and genetic studies in a family with mitochondrial myopathy.

Heiman-Patterson TD, Argov Z, Chavin JM, Kalman B, Alder H, DiMauro S, Bank W, Tahmoush AJ.

Muscle Nerve. 1997 Oct;20(10):1219-24.

PMID:
9324076
19.

Neuroleptic malignant syndrome and malignant hyperthermia. Important issues for the medical consultant.

Heiman-Patterson TD.

Med Clin North Am. 1993 Mar;77(2):477-92. Review.

PMID:
8095087
20.

Modulation of Ca2+ release and Na+ channel function in skeletal muscle by fatty acids.

Fletcher JE, Wieland SJ, Beech J, Heiman-Patterson TD, Rosenberg H.

Adv Exp Med Biol. 1992;311:329-31.

PMID:
1326861
21.

Clinical and electrophysiological assessments in ALS patients.

Tahmoush AJ, Gillespie JA, Hulihan JF, Siegal DR, Parry GJ, Kushner H, Heiman-Patterson TD.

Electromyogr Clin Neurophysiol. 1991 Dec;31(8):491-6.

PMID:
1797545
22.

Malignant hyperthermia.

Heiman-Patterson TD.

Semin Neurol. 1991 Sep;11(3):220-7. Review. No abstract available.

PMID:
1947484
23.

Cramp-fasciculation syndrome: a treatable hyperexcitable peripheral nerve disorder.

Tahmoush AJ, Alonso RJ, Tahmoush GP, Heiman-Patterson TD.

Neurology. 1991 Jul;41(7):1021-4.

PMID:
1648679
24.

Factors influencing outcome of prednisone dose reduction in myasthenia gravis.

Miano MA, Bosley TM, Heiman-Patterson TD, Reed J, Sergott RC, Savino PJ, Schatz NJ.

Neurology. 1991 Jun;41(6):919-21.

PMID:
2046940
25.

Peripheral neuropathy associated with eosinophilia-myalgia syndrome.

Heiman-Patterson TD, Bird SJ, Parry GJ, Varga J, Shy ME, Culligan NW, Edelsohn L, Tatarian GT, Heyes MP, Garcia CA, et al.

Ann Neurol. 1990 Oct;28(4):522-8.

PMID:
2174666
26.

Clinical spectrum of the systemic manifestations of the eosinophilia-myalgia syndrome.

Varga J, Heiman-Patterson TD, Emery DL, Griffin R, Lally EV, Uitto JJ, Jimenez SA.

Semin Arthritis Rheum. 1990 Jun;19(6):313-28. No abstract available.

PMID:
2164712
27.

Pregnancy and autoimmune neuromuscular disease.

Parry GJ, Heiman-Patterson TD.

Semin Neurol. 1988 Sep;8(3):197-204. Review. No abstract available.

PMID:
3057551
28.

Halothane-caffeine contracture testing in neuromuscular diseases.

Heiman-Patterson TD, Rosenberg H, Fletcher JE, Tahmoush AJ.

Muscle Nerve. 1988 May;11(5):453-7.

PMID:
3374516
29.

Malignant hyperthermia susceptibility in neuroleptic malignant syndrome.

Caroff SN, Rosenberg H, Fletcher JE, Heiman-Patterson TD, Mann SC.

Anesthesiology. 1987 Jul;67(1):20-5.

PMID:
3605730
30.

Malignant hyperthermia susceptibility in X-linked muscle dystrophies.

Heiman-Patterson TD, Natter HM, Rosenberg HR, Fletcher JE, Tahmoush AJ.

Pediatr Neurol. 1986 Nov-Dec;2(6):356-8.

PMID:
3508709
31.

King-Denborough syndrome: contracture testing and literature review.

Heiman-Patterson TD, Rosenberg HR, Binning CP, Tahmoush AJ.

Pediatr Neurol. 1986 May-Jun;2(3):175-7. Review.

PMID:
2907859
32.

Morphological changes in the cochlear nuclear complex in primate phylogeny and development.

Heiman-Patterson TD, Strominger NL.

J Morphol. 1985 Dec;186(3):289-306.

PMID:
4087302
33.

Neuroleptic malignant syndrome. Patient with unique clinical and physiologic features.

Downey GP, Rosenberg M, Caroff S, Beck S, Rosenberg H, Gerber JC, Heiman-Patterson TD, Aronson MD.

Am J Med. 1984 Aug;77(2):338-40.

PMID:
6147089
34.

Concanavalin A binding of the cell surface of Duchenne muscle in vitro.

Heiman-Patterson TD, Bonilla E, Schotland DL.

Ann Neurol. 1982 Sep;12(3):305-7. No abstract available.

PMID:
7137967
35.

Cytochrome-c-oxidase deficiency in a floppy infant.

Heiman-Patterson TD, Bonilla E, DiMauro S, Foreman J, Schotland DL.

Neurology. 1982 Aug;32(8):898-901. No abstract available.

PMID:
6285228

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