PMC Articles for MedGen (Select 96533) - PMC

N. C. Voermans, R. C. van der Bilt, J. IJspeert, J. Y. Hogrel, M. Jeanpierre, A. Behin, P. Laforet, T. Stojkovic, B. G. van Engelen, G. W. Padberg, S. Sacconi, R. J. L. F. Lemmers, S. M. van der Maarel, B. Eymard, G. Bassez

J Neurol. 2019; 266(12): 2987–2996. Published online 2019 Aug 31. doi: 10.1007/s00415-019-09494-8

PMCID:: PMC6851043

Abstract Article PDF–775K

Select item 60937684.

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

Mariëlle Wohlgemuth, Richard J. Lemmers, Marianne Jonker, Elly van der Kooi, Corinne G. Horlings, Baziel G. van Engelen, Silvere M. van der Maarel, George W. Padberg, Nicol C. Voermans

Neurology. 2018 Jul 31; 91(5): e444–e454. doi: 10.1212/WNL.0000000000005915

PMCID:: PMC6093768

Abstract Article PDF–407K

Select item 58238395.

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1

Hyung Jun Park, Wookjae Lee, Se Hoon Kim, Jung Hwan Lee, Ha Young Shin, Seung Min Kim, Kee Duk Park, Ji Hyun Lee, Young-Chul Choi

Yonsei Med J. 2018 Mar 1; 59(2): 337–340. Published online 2017 Feb 5. doi: 10.3349/ymj.2018.59.2.337

PMCID:: PMC5823839

Abstract Article PDF–841K

Select item 49706896.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

Gina L O'Grady, Alan Ma, Deborah Sival, Monica T Y Wong, Tony Peduto, Manoj P Menezes, Helen Young, Leigh Waddell, Roula Ghaoui, Merrilee Needham, Monkol Lek, Kathryn N North, Daniel G MacArthur, Conny MA van Ravenswaaij-Arts, Nigel F Clarke

Eur J Hum Genet. 2016 Aug; 24(8): 1216–1219. Published online 2016 Jan 27. doi: 10.1038/ejhg.2015.276

PMCID:: PMC4970689

Abstract Article PDF–586K

Select item 38069097.

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy

Katie L. Lutz, Lenore Holte, Stephanie A. Kliethermes, Carrie Stephan, Katherine D. Mathews

Neurology. 2013 Oct 15; 81(16): 1374–1377. doi: 10.1212/WNL.0b013e3182a84140

PMCID:: PMC3806909

Abstract Article PDF–309K

Select item 33776768.

A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1

Yan Lu, Xingang Li, Min Wang, Xin Li, Feng Zhang, Yun Li, Meng Zhang, Yuwei Da, Jun Yu, Jianping Jia

PLoS One. 2012; 7(6): e39288. Published online 2012 Jun 18. doi: 10.1371/journal.pone.0039288

PMCID:: PMC3377676

Abstract Article PDF–697K

Select item 109906889.

Delayed Unilateral Facet Interlocking After a Stable Superior Articular Process Fracture of the Cervical Spine: A Case Report

Sejin Choi, Wonseok Lee, Jin-Deok Joo, Jong Kook Rhim, You Nam Chung, Jisoon Huh

Korean J Neurotrauma. 2024 Mar; 20(1): 57–62. Published online 2024 Feb 6. doi: 10.13004/kjnt.2024.20.e1

PMCID:: PMC10990688

Abstract Article PDF–2.7M

Select item 1077901710.

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3

Aysylu Murtazina, Artem Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oksana Ryzhkova, Nikolay Skryabin, Sergey Kutsev, Elena Dadali

Int J Mol Sci. 2024 Jan; 25(1): 129. Published online 2023 Dec 21. doi: 10.3390/ijms25010129

PMCID:: PMC10779017

Abstract Article PDF–2.5M

Select item 1055555211.

Selective upper trunk posterior division fascicular nerve transfer for proximal spinal accessory neuropathy: illustrative case

Kitty Y Wu, Robert J Spinner

J Neurosurg Case Lessons. 2023 Aug 28; 6(9): CASE23348. Published online 2023 Aug 28. doi: 10.3171/CASE23348

PMCID:: PMC10555552

Abstract Article PDF–899K

Select item 1051718112.

Beyond the Ordinary: An Atypical Guillain-Barré Syndrome Case With Unique Characteristics

Victor D Acuña-Rocha, Luis A González-Torres, Claudia E Gómez-Hernández, Ramon A Martínez-Scweinfurth

Cureus. 2023 Aug; 15(8): e44008. Published online 2023 Aug 23. doi: 10.7759/cureus.44008

PMCID:: PMC10517181

Abstract Article PDF–801K

Select item 953169713.

The Importance of Differentiating Parsonage-Turner Syndrome From Cervical Radiculopathy: A Case Report

Ben Silverman, Tejas Shah, Gurtej Bajaj, Michael Hodde, Adrian Popescu

Cureus. 2022 Sep; 14(9): e28723. Published online 2022 Sep 3. doi: 10.7759/cureus.28723

PMCID:: PMC9531697

Abstract Article PDF–458K

Select item 920770514.

Multifocal Motor Neuropathy With Cranial Nerve Involvement and Vocal Cord Paralysis: A Case Report

Maria Clarissa Nunez, Belinda Lioba M Nepomuceno, Ma Luisa Gwenn P Tiongson

Cureus. 2022 May; 14(5): e25179. Published online 2022 May 21. doi: 10.7759/cureus.25179

PMCID:: PMC9207705

Abstract Article PDF–88K

Select item 914225515.

Isolated Spinal Accessory Nerve Palsy from Volleyball Injury

Cole A. Holan, Brent M. Egeland, Steven L. Henry

Arch Plast Surg. 2022 May; 49(3): 440–443. Published online 2022 May 27. doi: 10.1055/s-0042-1748660

PMCID:: PMC9142255

Abstract Article PDF–2.5M

Select item 846587616.

Shoulder Isokinetic Strength Deficit in Patients with Neurogenic Thoracic Outlet Syndrome

Pauline Daley, Germain Pomares, Pierre Menu, Guillaume Gadbled, Marc Dauty, Alban Fouasson-Chailloux

Diagnostics (Basel) 2021 Sep; 11(9): 1529. Published online 2021 Aug 24. doi: 10.3390/diagnostics11091529

PMCID:: PMC8465876

Abstract Article PDF–277K

Select item 828495817.

Dual attack: targeting the rare co-occurrence of myasthenia gravis and Graves’ disease with radioactive iodine therapy

Anna Elvira S Arcellana, Karen Joy B Adiao, Myrna Buenaluz-Sedurante

Endocrinol Diabetes Metab Case Rep. 2021; 2021: 21-0046. Published online 2021 Jun 7. doi: 10.1530/EDM-21-0046

PMCID:: PMC8284958

Abstract Article PDF–504K

Select item 806482318.

Neuralgic amyotrophy and COVID-19 infection: 2 cases of spinal accessory nerve palsy

Clemence Coll, Muriel Tessier, Christophe Vandendries, Paul Seror

Joint Bone Spine. 2021 Oct; 88(5): 105196. Published online 2021 Apr 24. doi: 10.1016/j.jbspin.2021.105196

PMCID:: PMC8064823

Abstract Article PDF–659K

Select item 691853619.

Use of Noninvasive Ventilation with Volume-Assured Pressure Support in Neuralgic Amyotrophy with Bilateral Diaphragmatic Paralysis

Montserrat Diaz-Abad, Neil Porter, Lindsay Zilliox, Nevins Todd

Open Respir Med J. 2019; 13: 45–47. Published online 2019 Jul 8. doi: 10.2174/1874306401913010045

PMCID:: PMC6918536

Abstract Article PDF–266K

Select item 650606520.

Unsafe workout: a weak and painful shoulder in a professional volleyball player

Andrea Ermolao, Michela Brogi, Veronica Baioccato, Sara Rovai

BMJ Case Rep. 2019; 12(5): e228084. Published online 2019 May 5. doi: 10.1136/bcr-2018-228084

PMCID:: PMC6506065

Abstract Article PDF–306K

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