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Select item 41551681.

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

Liana Veneziano, Michael H. Parkinson, Elide Mantuano, Marina Frontali, Kailash P. Bhatia, Paola Giunti

Cerebellum. 2014; 13(5): 588–595. Published online 2014 Jun 15. doi: 10.1007/s12311-014-0570-7

PMCID:: PMC4155168

Abstract Article PDF–528K

Select item 47472822.

ADCY5 Mutations and Benign Hereditary Chorea

J. Gordon Millichap

Pediatr Neurol Briefs. 2015 Sep; 29(9): 70. Published online 2015 Oct 11. doi: 10.15844/pedneurbriefs-29-9-5

PMCID:: PMC4747282

Abstract Article PDF–165K

Select item 48179083.

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia

Claudio M. de Gusmao, Fernando Kok, Erasmo Barbante Casella, Jeff L. Waugh

Neurol Genet. 2016 Feb; 2(1): e40. Published online 2015 Dec 22. doi: 10.1212/NXG.0000000000000040

PMCID:: PMC4817908

Article PDF–107K

Select item 47366614.

Benign hereditary chorea, not only chorea: a family case presentation

Jeanette Koht, Sven Olav Løstegaard, Iselin Wedding, Marie Vidailhet, Malek Louha, Chantal ME Tallaksen

Cerebellum Ataxias. 2016; 3: 3. Published online 2016 Feb 2. doi: 10.1186/s40673-016-0041-7

PMCID:: PMC4736661

Abstract Article PDF–772K

Select item 45024015.

Benign Hereditary Chorea: An Update

Kathryn J. Peall, Manju A. Kurian

Tremor Other Hyperkinet Mov (N Y) 2015; 5: 314. Published online 2015 Jul 14. doi: 10.7916/D8RJ4HM5

PMCID:: PMC4502401

Abstract Article PDF–1.5M

Select item 45019376.

ADCY5 mutations are another cause of benign hereditary chorea

Niccolo E. Mencacci, Roberto Erro, Sarah Wiethoff, Joshua Hersheson, Mina Ryten, Bettina Balint, Christos Ganos, Maria Stamelou, Niall Quinn, Henry Houlden, Nicholas W. Wood, Kailash P. Bhatia

Neurology. 2015 Jul 7; 85(1): 80–88. doi: 10.1212/WNL.0000000000001720

PMCID:: PMC4501937

Abstract Article PDF–651K

Select item 63355337.

Is Benign Hereditary Chorea Really Benign? Brain‐Lung‐Thyroid Syndrome Caused by NKX2‐1 Mutations

Mered Parnes, Hassaan Bashir, Joseph Jankovic

Mov Disord Clin Pract. 2019 Jan; 6(1): 34–39. Published online 2018 Nov 9. doi: 10.1002/mdc3.12690

PMCID:: PMC6335533

Abstract Article PDF–262K

Select item 63533948.

Huntington's Disease, Huntington's Disease Look‐Alikes‎, and Benign Hereditary Chorea: What's New?

Susanne A. Schneider, Thomas Bird

Mov Disord Clin Pract. 2016 Jul-Aug; 3(4): 342–354. Published online 2016 Jan 27. doi: 10.1002/mdc3.12312

PMCID:: PMC6353394

Abstract Article PDF–367K

Select item 10166349.

Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

J C MacMillan, P J Morrison, N C Nevin, D J Shaw, P S Harper, O W Quarrell, R G Snell

J Med Genet. 1993 Dec; 30(12): 1012–1013. doi: 10.1136/jmg.30.12.1012

PMCID:: PMC1016634

Summary Page Browse PDF–441K

Select item 812374410.

Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

Jun Liao, Keith A. Coffman, Joseph Locker, Quasar S. Padiath, Bruce Nmezi, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan‐Khetarpal, Marianne McGuire, Allison Schreiber, Rocio Moran, Neil Friedman, Lori Hoffner, Aleksandar Rajkovic, Svetlana A. Yatsenko, Urvashi Surti

Mol Genet Genomic Med. 2021 Apr; 9(4): e1647. Published online 2021 Mar 5. doi: 10.1002/mgg3.1647

PMCID:: PMC8123744

Abstract Article PDF–1.0M

Select item 896056611.

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

Steffi Thust, Liana Veneziano, Michael H. Parkinson, Kailash P. Bhatia, Elide Mantuano, Cristina Gonzalez-Robles, Indran Davagnanam, Paola Giunti

Neurogenetics. 2022; 23(2): 91–102. Published online 2022 Jan 25. doi: 10.1007/s10048-021-00680-3

PMCID:: PMC8960566

Abstract Article PDF–1.1M

Select item 101548512.

Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).

O W Quarrell, S Youngman, M Sarfarazi, P S Harper

J Med Genet. 1988 Mar; 25(3): 191–194. doi: 10.1136/jmg.25.3.191

PMCID:: PMC1015485

Summary Page Browse PDF–424K

Select item 128831813.

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q

Bert B. A. de Vries, Willem F. M. Arts, Guido J. Breedveld, Jeannette J. M. Hoogeboom, Martinus F. Niermeijer, Peter Heutink

Am J Hum Genet. 2000 Jan; 66(1): 136–142. Published online 1999 Dec 27. doi: 10.1086/302725

PMCID:: PMC1288318

Abstract Article PDF–204K

Select item 1136582714.

Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders

Julia Skwara, Maciej Nowicki, Lucia Sharif, Łukasz Milanowski, Jarosław Dulski, Ewelina Elert-Dobkowska, Katarzyna Skrzypek, Dorota Hoffman-Zacharska, Dariusz Koziorowski, Jarosław Sławek

J Neural Transm (Vienna) 2024; 131(9): 1013–1024. Published online 2024 Jun 25. doi: 10.1007/s00702-024-02800-3

PMCID:: PMC11365827

Abstract Article PDF–2.1M

Select item 405364515.

Striatal disorders dissociate mechanisms of enhanced and impaired response selection — Evidence from cognitive neurophysiology and computational modelling

Christian Beste, Mark Humphries, Carsten Saft

Neuroimage Clin. 2014; 4: 623–634. Published online 2014 Apr 12. doi: 10.1016/j.nicl.2014.04.003

PMCID:: PMC4053645

Abstract Article PDF–1.4M

Select item 423121916.

Genetic disorders of thyroid metabolism and brain development

Manju A Kurian, Heinz Jungbluth

Dev Med Child Neurol. 2014 Jul; 56(7): 627–634. Published online 2014 Mar 26. doi: 10.1111/dmcn.12445

PMCID:: PMC4231219

Abstract Article PDF–342K

Select item 256451317.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

S Tezenas du Montcel, F Clot, M Vidailhet, E Roze, P Damier, C P Jedynak, A Camuzat, A Lagueny, L Vercueil, D Doummar, L Guyant‐Maréchal, J‐L Houeto, G Ponsot, S Thobois, M‐A Cournelle, A Durr, F Durif, B Echenne, D Hannequin, C Tranchant, A Brice

J Med Genet. 2006 May; 43(5): 394–400. Published online 2005 Oct 14. doi: 10.1136/jmg.2005.036780

PMCID:: PMC2564513

Abstract Article PDF–272K

Select item 495000318.

Phenotypic insights into ADCY5‐associated disease

Florence C.F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez‐Dueñas, Padraic Grattan‐Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung

Mov Disord. 2016 Jul; 31(7): 1033–1040. Published online 2016 Apr 8. doi: 10.1002/mds.26598

PMCID:: PMC4950003

Abstract Article PDF–366K

Select item 722068819.

Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report

Rui Gu, Guangyong Ye, Yimin Zhou, Zhou Jiang

Medicine (Baltimore) 2020 Mar; 99(12): e19650. Published online 2020 Mar 20. doi: 10.1097/MD.0000000000019650

PMCID:: PMC7220688

Abstract Article PDF–631K

Select item 541728820.

A Video Report of Brain–Lung–Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene

Takenori Tozawa, Kenji Yokochi, Satoshi Kono, Takashi Konishi, Toshiyuki Yamamoto, Akira Nishimura, Tomohiro Chiyonobu, Masafumi Morimoto, Hajime Hosoi

Child Neurol Open. 2016 Jan-Dec; 3: 2329048X16665012. Published online 2016 Aug 24. doi: 10.1177/2329048X16665012

PMCID:: PMC5417288

Abstract Article PDF–197K

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