PMC Articles for MedGen (Select 357212) - PMC

Vafa Alakbarzade, Thomas Iype, Barry A. Chioza, Royana Singh, Gaurav V. Harlalka, Holly Hardy, Ajith Sreekantan-Nair, Christos Proukakis, Kathryn Peall, Lorraine N. Clark, Richard Caswell, Hana Lango Allen, Matthew Wakeling, John K. Chilton, Emma L. Baple, Elan D. Louis, Thomas T. Warner, Andrew H. Crosby

Neurol Genet. 2019 Feb; 5(1): e307. Published online 2019 Feb 4. doi: 10.1212/NXG.0000000000000307

PMCID:: PMC6384021

Abstract Article PDF–318K

Select item 63806594.

Compound heterozygous mutations in PARK2 causing early-onset Parkinson disease: A case report

Yu-Qing Fang, Fei Mao, Mei-Jia Zhu, Xiu-Hua Li

Medicine (Baltimore) 2019 Feb; 98(5): e14228. Published online 2019 Feb 1. doi: 10.1097/MD.0000000000014228

PMCID:: PMC6380659

Abstract Article PDF–424K

Select item 4940785.

Clinical manifestations of essential tremor

Edmund Critchley

J Neurol Neurosurg Psychiatry. 1972 Jun; 35(3): 365–372. doi: 10.1136/jnnp.35.3.365

PMCID:: PMC494078

Summary Page Browse PDF–1.4M

Select item 17159846.

Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity.

P R Jarman, N W Wood, M T Davis, P V Davis, K P Bhatia, C D Marsden, M B Davis

Am J Hum Genet. 1997 Oct; 61(4): 928–933. doi: 10.1086/514883

PMCID:: PMC1715984

Summary Page Browse PDF–970K

Select item 18625277.

Essential tremor.

T. J. Murray

Can Med Assoc J. 1981 Jun 15; 124(12): 1559-65, 1570.

PMCID:: PMC1862527

Summary Page Browse PDF–1.7M

Select item 21057448.

Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

Yu-hu Zhang, Bei-sha Tang, Ai-ling Zhao, Kun Xia, Zhi-gao Long, Ji-feng Guo, Shawn K. Westaway, Susan J. Hayflick

Mov Disord. Author manuscript; available in PMC 2007 Dec 4.

Published in final edited form as: Mov Disord. 2005 Jul; 20(7): 819–821. doi: 10.1002/mds.20408

PMCID:: PMC2105744

Abstract Article PDF–190K

Select item 25264279.

Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea

Sei Joo Kim, Joon Shik Yoon, Hye Jin Baek, Sang Il Suh, Sook Young Bae, Hyun-Jung Cho, Chang-Seok Ki

J Korean Med Sci. 2008 Apr; 23(2): 328–331. Published online 2008 Apr 20. doi: 10.3346/jkms.2008.23.2.328

PMCID:: PMC2526427

Abstract Article PDF–264K

Select item 415052810.

The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations

Maria Stamelou, Gavin Charlesworth, Carla Cordivari, Susanne A Schneider, Georg Kägi, Una-Marie Sheerin, Ignacio Rubio-Agusti, Amit Batla, Henry Houlden, Nicholas W Wood, Kailash P Bhatia

Mov Disord. 2014 Jun; 29(7): 928–934. Published online 2014 Jan 17. doi: 10.1002/mds.25802

PMCID:: PMC4150528

Abstract Article PDF–530K

Select item 419909511.

Tremulous cervical dystonia is likely to be familial: Clinical characteristics of a large cohort

I. Rubio-Agusti, I. Pareés, M. Kojovic, M. Stamelou, T.A. Saifee, G. Charlesworth, U.M. Sheerin, M.J. Edwards, K.P. Bhatia

Parkinsonism Relat Disord. Author manuscript; available in PMC 2014 Oct 16.

Published in final edited form as: Parkinsonism Relat Disord. 2013 Jun; 19(6): 634–638. Published online 2013 Mar 21. doi: 10.1016/j.parkreldis.2013.02.017

PMCID:: PMC4199095

Abstract Article PDF–167K

Select item 489265812.

Spontaneous shaker rat mutant – a new model for X-linked tremor/ataxia

Karla P. Figueroa, Sharan Paul, Tito Calì, Raffaele Lopreiato, Sukanya Karan, Martina Frizzarin, Darren Ames, Ginevra Zanni, Marisa Brini, Warunee Dansithong, Brett Milash, Daniel R. Scoles, Ernesto Carafoli, Stefan M. Pulst

Dis Model Mech. 2016 May 1; 9(5): 553–562. doi: 10.1242/dmm.022848

PMCID:: PMC4892658

Abstract Article

Select item 1118796113.

Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P. Verma, Rick Stell, Mark Davis, Phillipa Lamont

Ann Clin Transl Neurol. 2024 Jun; 11(6): 1636–1642. Published online 2024 May 3. doi: 10.1002/acn3.52064

PMCID:: PMC11187961

Abstract Article PDF–756K

Select item 669191014.

Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)

Ghazal Haeri, Gholamali Shahidi, Alfonso Fasano, Mohammad Rohani

Tremor Other Hyperkinet Mov (N Y) 2019; 9: 10.7916/tohm.v0.656. Published online 2019 Aug 2. doi: 10.7916/tohm.v0.656

PMCID:: PMC6691910

Abstract Article PDF–869K

Select item 739420015.

Delayed Diagnoses of SGCE Myoclonus-Dystonia

M. Georgeta Varga, Nikita P. Nand, Mark S. LeDoux

Tremor Other Hyperkinet Mov (N Y) 2020; 10: 23. Published online 2020 Jul 28. doi: 10.5334/tohm.334

PMCID:: PMC7394200

Abstract Article PDF–572K

Select item 759758016.

Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E

Cliona Buckley, Jennifer Williams, Tudor Munteanu, Mary King, Su Mi Park, Andrea L. Meredith, Timothy Lynch

Tremor Other Hyperkinet Mov (N Y) 2020; 10: 49. Published online 2020 Oct 27. doi: 10.5334/tohm.549

PMCID:: PMC7597580

Abstract Article PDF–1.9M

Select item 811876817.

Essential Head Tremor Is Associated with Cerebellar Vermis Atrophy: A Volumetric and Voxel-Based Morphometry MR Imaging Study

A. Quattrone, A. Cerasa, D. Messina, G. Nicoletti, G.E. Hagberg, L. Lemieux, F. Novellino, P. Lanza, G. Arabia, M. Salsone

AJNR Am J Neuroradiol. 2008 Oct; 29(9): 1692–1697. doi: 10.3174/ajnr.A1190

PMCID:: PMC8118768

Abstract Article PDF–260K

Select item 912802718.

The BCL2 Inhibitor Venetoclax Plus Rituximab Is Active in MYD88 Wild-Type Polyneuropathy With Anti-MAG Antibodies

Chiara Briani, Andrea Visentin, Francesca Castellani, Mario Cacciavillani, Livio Trentin

Neurol Neuroimmunol Neuroinflamm. 2022 Jul; 9(4): e1181. Published online 2022 May 16. doi: 10.1212/NXI.0000000000001181

PMCID:: PMC9128027

Abstract Article PDF–141K

Select item 930293219.

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffner, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen

Neurology. 2022 Jul 19; 99(3): e221–e233. doi: 10.1212/WNL.0000000000200715

Correction in:: Neurology. 2023 Jul 4; 101(1): 52.

PMCID:: PMC9302932

Abstract Article PDF–526K

Select item 952581620.

Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology

Lorraine N. Clark, Yizhe Gao, Gao T. Wang, Nora Hernandez, Allison Ashley-Koch, Joseph Jankovic, Ruth Ottman, Suzanne M. Leal, Sandra M. Barral Rodriguez, Elan D. Louis

eBioMedicine. 2022 Nov; 85: 104290. Published online 2022 Sep 29. doi: 10.1016/j.ebiom.2022.104290

PMCID:: PMC9525816

Abstract Article PDF–885K

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