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Items: 1 to 50 of 134

1.

ULK1 and ULK2 Regulate Stress Granule Disassembly Through Phosphorylation and Activation of VCP/p97.

Wang B, Maxwell BA, Joo JH, Gwon Y, Messing J, Mishra A, Shaw TI, Ward AL, Quan H, Sakurada SM, Pruett-Miller SM, Bertorini T, Vogel P, Kim HJ, Peng J, Taylor JP, Kundu M.

Mol Cell. 2019 May 16;74(4):742-757.e8. doi: 10.1016/j.molcel.2019.03.027. Epub 2019 Apr 9.

PMID:
30979586
2.

A Man With Distal Asymmetric Leg Weakness.

Bello R, Bertorini T.

J Clin Neuromuscul Dis. 2017 Jun;18(4):235-243. doi: 10.1097/CND.0000000000000147.

PMID:
28538255
3.

A Case of Asymptomatic Inclusion Body Myositis.

Bello R, Bertorini T, Ganta K, Mays W.

J Clin Neuromuscul Dis. 2017 Mar;18(3):132-134. doi: 10.1097/CND.0000000000000142.

PMID:
28221303
4.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PMID:
27854218
5.

Comparative Long-Term Evaluation of Patients With Juvenile Inflammatory Myopathies.

Elahi HA, Bertorini TE, Igarashi M, Mays WH 3rd, Whitaker JN.

J Clin Neuromuscul Dis. 2016 Sep;18(1):21-7. doi: 10.1097/CND.0000000000000131.

PMID:
27552385
6.

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.

Punetha J, Mansoor S, Bertorini TE, Kesari A, Brown KJ, Hoffman EP.

Eur J Hum Genet. 2016 Oct;24(10):1511-4. doi: 10.1038/ejhg.2016.22. Epub 2016 Mar 9.

7.

An Overview of Laryngeal Muscle Single Fiber Electromyography.

Bertorini TE, Sharaf AG.

J Clin Neurophysiol. 2015 Aug;32(4):304-8. doi: 10.1097/WNP.0000000000000176. Review.

PMID:
26241239
8.

A multi-center screening trial of rasagiline in patients with amyotrophic lateral sclerosis: Possible mitochondrial biomarker target engagement.

Macchi Z, Wang Y, Moore D, Katz J, Saperstein D, Walk D, Simpson E, Genge A, Bertorini T, Fernandes JA, Swenson A, Elman L, Dimachkie M, Herbelin L, Miller J, Lu J, Wilkins H, Swerdlow RH, Statland J, Barohn R; Western ALS (WALS) Rasagiline Study Group.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):345-52. doi: 10.3109/21678421.2015.1026826. Epub 2015 Apr 2.

9.

An adult male with progressive spastic paraparesis and gait instability.

Ly H, Bertorini TE, Shah N.

J Clin Neuromuscul Dis. 2014 Dec;16(2):98-103. doi: 10.1097/CND.0000000000000058.

PMID:
25415522
10.

Neurologic complications of disorders of the adrenal glands.

Bertorini TE, Perez A.

Handb Clin Neurol. 2014;120:749-71. doi: 10.1016/B978-0-7020-4087-0.00050-4. Review.

PMID:
24365350
11.

A male with progressive lower extremity weakness and monoclonal gammopathy.

Mansoor S, Bertorini TE.

J Clin Neuromuscul Dis. 2013 Jun;14(4):194-203. doi: 10.1097/CND.0b013e31829081cc.

PMID:
23703016
12.

Signal recognition antibody-positive myopathy and response to intravenous immunoglobulin G (IVIG).

Garcia-Rosell M, Moore S, Pattanaik D, Menon Y, Bertorini T, Carbone L.

J Clin Rheumatol. 2013 Jun;19(4):214-7. doi: 10.1097/RHU.0b013e31828e6442. No abstract available.

PMID:
23669796
13.

ALS Untangled No. 20: the Deanna protocol.

ALSUntangled Group, Fournier C, Bedlack B, Hardiman O, Heiman-Patterson T, Gutmann L, Bromberg M, Ostrow L, Carter G, Kabashi E, Bertorini T, Mozaffar T, Andersen P, Dietz J, Gamez J, Dimachkie M, Wang Y, Wicks P, Heywood J, Novella S, Rowland LP, Pioro E, Kinsley L, Mitchell K, Glass J, Sathornsumetee S, Kwiecinski H, Baker J, Atassi N, Forshew D, Ravits J, Conwit R, Jackson C, Sherman A, Dalton K, Tindall K, Gonzalez G, Robertson J, Phillips L, Benatar M, Sorenson E, Shoesmith C, Nash S, Maragakis N, Moore D, Caress J, Boylan K, Armon C, Grosso M, Gerecke B, Wymer J, Oskarsson B, Bowser R, Drory V, Shefner J, Lechtzin N, Leitner M, Miller R, Mitsumoto H, Levine T, Russell J, Sharma K, Saperstein D, McClusky L, MacGowan D, Licht J, Verma A, Strong M, Lomen-Hoerth C, Tandan R, Rivner M, Kolb S, Polak M, Rudnicki S, Kittrell P, Quereshi M, Sachs G, Pattee G, Weiss M, Kissel J, Goldstein J, Rothstein J, Pastula D, Gleb L, Ogino M, Rosenfeld J, Carmi E, Oster C, Barkhaus P, Valor E.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 May;14(4):319-23. doi: 10.3109/21678421.2013.788405. Epub 2013 May 2. Review. No abstract available.

PMID:
23638638
14.

Dermatomyositis presenting with focal scleroderma-like skin changes.

Chai Y, Bertorini TE, Khan RB, Randall MB, Shadle MK.

J Clin Neuromuscul Dis. 2012 Jun;13(4):191-5. doi: 10.1097/CND.0b013e3182461966.

PMID:
22622162
15.

Pentoxifylline as a rescue treatment for DMD: a randomized double-blind clinical trial.

Escolar DM, Zimmerman A, Bertorini T, Clemens PR, Connolly AM, Mesa L, Gorni K, Kornberg A, Kolski H, Kuntz N, Nevo Y, Tesi-Rocha C, Nagaraju K, Rayavarapu S, Hache LP, Mayhew JE, Florence J, Hu F, Arrieta A, Henricson E, Leshner RT, Mah JK.

Neurology. 2012 Mar 20;78(12):904-13. doi: 10.1212/WNL.0b013e31824c46be. Epub 2012 Mar 7.

16.

A fatal presentation of dermatomyositis with facial swelling.

Dwivedi N, Michael C, Lew DB, Arnold S, Igarashi M, Bertorini T, Thompson JW, Myers LK, Brown ML.

Int J Pediatr Otorhinolaryngol. 2012 May;76(5):745-9. doi: 10.1016/j.ijporl.2012.01.037. Epub 2012 Feb 28.

PMID:
22376996
17.

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy.

Escolar DM, Hache LP, Clemens PR, Cnaan A, McDonald CM, Viswanathan V, Kornberg AJ, Bertorini TE, Nevo Y, Lotze T, Pestronk A, Ryan MM, Monasterio E, Day JW, Zimmerman A, Arrieta A, Henricson E, Mayhew J, Florence J, Hu F, Connolly AM.

Neurology. 2011 Aug 2;77(5):444-52. doi: 10.1212/WNL.0b013e318227b164. Epub 2011 Jul 13.

18.

Limb edema and anasarca associated with severe dermatomyositis: report of four cases.

Chai Y, Bertorini TE, Li YD, Mitchell C, Guan H.

Neuromuscul Disord. 2011 Jun;21(6):439-42. doi: 10.1016/j.nmd.2011.03.003. Epub 2011 Apr 11.

PMID:
21482469
19.

Effects of 3-4 diaminopyridine (DAP) in motor neuron diseases.

Bertorini TE, Rashed H, Zeno M, Tolley EA, Igarashi M, Li YD.

J Clin Neuromuscul Dis. 2011 Mar;12(3):129-37. doi: 10.1097/CND.0b013e3182095b2b.

PMID:
21321491
20.

Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings.

Chai Y, Bertorini TE, McGrew FA.

Muscle Nerve. 2011 Jan;43(1):133-6. doi: 10.1002/mus.21839.

PMID:
21082694
21.

A female with progressive four-limb paresthesias and gait difficulty.

Chai Y, Bertorini TE.

J Clin Neuromuscul Dis. 2010 Jun;11(4):191-7. doi: 10.1097/CND.0b013e3181be0f41.

PMID:
20516807
22.

Artifact on electromyography produced by an implanted sacral nerve stimulator.

O'carroll P, Bertorini TE, Maccarino S.

J Clin Neuromuscul Dis. 2009 Dec;11(2):77-8. doi: 10.1097/CND.0b013e3181b40d37.

PMID:
19955988
23.

Transient neonatal myasthenia gravis in a baby born to a mother with new-onset anti-MuSK-mediated myasthenia gravis.

O'carroll P, Bertorini TE, Jacob G, Mitchell CW, Graff J.

J Clin Neuromuscul Dis. 2009 Dec;11(2):69-71. doi: 10.1097/CND.0b013e3181a78280.

PMID:
19955986
24.

Clinical findings in MuSK-antibody positive myasthenia gravis: a U.S. experience.

Pasnoor M, Wolfe GI, Nations S, Trivedi J, Barohn RJ, Herbelin L, McVey A, Dimachkie M, Kissel J, Walsh R, Amato A, Mozaffar T, Hungs M, Chui L, Goldstein J, Novella S, Burns T, Phillips L, Claussen G, Young A, Bertorini T, Oh S.

Muscle Nerve. 2010 Mar;41(3):370-4. doi: 10.1002/mus.21533.

PMID:
19882635
25.

Leucoencephalopathy, transverse myelopathy, and peripheral neuropathy in association with glutamic acid decarboxylase-65 (GAD) antibodies in children with cancer.

Ledet DS, Handgretinger R, Bertorini TE, Hale GA, Ribeiro RC, Khan RB.

J Child Neurol. 2008 Nov;23(11):1357-62. doi: 10.1177/0883073808315617. Epub 2008 May 12.

PMID:
18474930
26.

Diffusely increased insertional activity: "EMG disease" or asymptomatic myotonia congenita? A report of 2 cases.

Mitchell CW, Bertorini TE.

Arch Phys Med Rehabil. 2007 Sep;88(9):1212-3.

PMID:
17826470
27.

Whole-genome analysis of sporadic amyotrophic lateral sclerosis.

Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D, Hesterlee SE, Pestronk A, Levine T, Bertorini T, Graves MC, Mozaffar T, Jackson CE, Bosch P, McVey A, Dick A, Barohn R, Lomen-Hoerth C, Rosenfeld J, O'connor DT, Zhang K, Crook R, Ryberg H, Hutton M, Katz J, Simpson EP, Mitsumoto H, Bowser R, Miller RG, Appel SH, Stephan DA.

N Engl J Med. 2007 Aug 23;357(8):775-88. Epub 2007 Aug 1.

28.

Neuromuscular complications in uremics: a review.

Al-Hayk K, Bertorini TE.

Neurologist. 2007 Jul;13(4):188-96. Review.

PMID:
17622910
29.

Troponin level in patients with myopathies.

Gupta D, Bertorini T.

J Clin Neuromuscul Dis. 2006 Jun;7(4):212. doi: 10.1097/01.cnd.0000211405.86821.df. No abstract available.

PMID:
19078811
30.

CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.

Escolar DM, Buyse G, Henricson E, Leshner R, Florence J, Mayhew J, Tesi-Rocha C, Gorni K, Pasquali L, Patel KM, McCarter R, Huang J, Mayhew T, Bertorini T, Carlo J, Connolly AM, Clemens PR, Goemans N, Iannaccone ST, Igarashi M, Nevo Y, Pestronk A, Subramony SH, Vedanarayanan VV, Wessel H; CINRG Group.

Ann Neurol. 2005 Jul;58(1):151-5.

PMID:
15984021
31.

Enhancement of contralateral ptosis on passively holding an eyelid in mitochondrial myopathy resembling myasthenia gravis.

Owens WE, Gupta D, Bertorini T.

J Clin Neuromuscul Dis. 2005 Jun;6(4):188-90. doi: 10.1097/01.cnd.0000167098.73931.41.

PMID:
19078772
32.

Diffuse fasciitis with eosinophilia (shulman syndrome).

Owens WE 4th, Bertorini TE, Holt HT Jr, Shadle MK.

J Clin Neuromuscul Dis. 2004 Dec;6(2):99-101.

PMID:
19078756
33.

Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies.

Bertorini T, Narayanaswami P, Rashed H.

Neurologist. 2004 Nov;10(6):327-37. Review.

PMID:
15518599
34.

Long-term tracheostomy ventilation in neuromuscular diseases: patient acceptance and quality of life.

Narayanaswami P, Bertorini TE, Pourmand R, Horner LH.

Neurorehabil Neural Repair. 2000;14(2):135-9.

PMID:
15470824
35.

Perisurgical management of patients with neuromuscular disorders.

Bertorini TE.

Neurol Clin. 2004 May;22(2):293-313. Review.

PMID:
15062513
36.

Autoimmune neuropathies.

Bertorini T, Narayanaswami P.

Compr Ther. 2003 Winter;29(4):194-209. Review.

PMID:
14989041
37.

Clinical approach to a patient presenting with foot drop.

Gupta D, Bertorini TE.

J Clin Neuromuscul Dis. 2004 Mar;5(3):154-65. No abstract available.

PMID:
19078736
38.

Dropped head presentation of mitochondrial myopathy.

Rahim F, Gupta D, Bertorini TE, Ledoux MS.

J Clin Neuromuscul Dis. 2003 Dec;5(2):108-14.

PMID:
19078729
39.

HTLV-1 and its neurological complications.

Khan RB, Bertorini TE, Levin MC.

Neurologist. 2001 Sep;7(5):271-8.

PMID:
12803668
40.

Clinical approach to a patient presenting with muscle stiffness.

Ahmed SN, Bertorini TE, Narayanaswami P, Senthilkumar K.

J Clin Neuromuscul Dis. 2003 Mar;4(3):150-60. No abstract available.

PMID:
19078707
41.

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S.

Hum Mutat. 2003 Jan;21(1):99.

PMID:
12497639
42.

Diltiazem in the treatment of calcinosis in juvenile dermatomyositis.

Bertorini TE, Sebes JI, Palmieri GM, Igarashi M, Horner LH.

J Clin Neuromuscul Dis. 2001 Jun;2(4):191-3.

PMID:
19078635
43.

Progressive amyotrophy as a late complication of myelopathy.

Narayanaswami P, Bertorini TE.

J Neurol Sci. 2001 Feb 15;184(1):11-3.

PMID:
11231026
44.

Rapid growth of a basilar aneurysm.

Khan RB, Laster RE, Bertorini TE.

Am J Med Sci. 2000 Oct;320(4):281-5. Review.

PMID:
11061355
45.

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM.

Neuromuscul Disord. 2000 Dec;10(8):553-9.

PMID:
11053681
46.

Muscle and nerve imaging techniques in neuromuscular diseases.

Halford H, Graves A, Bertorini T.

J Clin Neuromuscul Dis. 2000 Sep;2(1):41-51.

PMID:
19078603
47.

Selective paraspinal muscle amyotrophy.

Narayanaswami P, Bertorini TE, Halford H 3rd.

J Neurol Sci. 2000 May 1;176(1):70-4.

PMID:
10865095
48.

Hidden afterdischarges in slow channel congenital myasthenic syndrome.

Bedlack RS, Bertorini TE, Sanders DB.

J Clin Neuromuscul Dis. 2000 Jun;1(4):186-90.

PMID:
19078585
49.

Focal myositis presenting with radial nerve palsy.

Alzagatiti BI, Bertorini TE, Horner LH, Maccarino VS, O'Brien T.

Muscle Nerve. 1999 Jul;22(7):956-9.

PMID:
10398220
50.

Bilateral ophthalmoplegia and exophthalmos complicating central hemodialysis catheter placement.

Varelas PN, Bertorini TE, Halford H.

Am J Kidney Dis. 1999 May;33(5):966-9.

PMID:
10213657

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