PMC Articles for MedGen (Select 488794) - PMC

Kento Sakashita, Katsuya Nishida, Yu Takenaka, Ichiro Yokota, Hiroshi Yamasaki, Keisuke Nishimoto, Kunihiko Kawamoto, Maki Mitani, Itaru Funakawa, Nobuaki Yoshikura, Akio Kimura, Takayoshi Shimohata, Naonobu Futamura

Case Rep Neurol. 2022 Sep-Dec; 14(3): 494–500. Published online 2023 Jan 5. doi: 10.1159/000526632

PMCID:: PMC9841793

Article PDF–326K

Select item 94214455.

Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants

Jehan Mousa, Larissa Veres, Anab Mohamed, Diederik De Graef, Eva Morava

Mol Genet Metab Rep. 2022 Sep; 32: 100901. Published online 2022 Jul 25. doi: 10.1016/j.ymgmr.2022.100901

PMCID:: PMC9421445

Article PDF–597K

Select item 84849206.

Truncal Instability and Titubation in Patients With Acute Encephalopathy With Reduced Subcortical Diffusion

Go Kawano, Yukako Yae, Kensuke Sakata, Takaoki Yokochi, Toru Imagi, Keizo Ohbu, Toyojiro Matsuishi

Front Neurol. 2021; 12: 740655. Published online 2021 Sep 17. doi: 10.3389/fneur.2021.740655

PMCID:: PMC8484920

Article PDF–1.5M

Select item 83714137.

Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review

Ashley A. Moeller, Marcia V. Felker, Jennifer A. Brault, Laura C. Duncan, Rizwan Hamid, Meredith R. Golomb

Child Neurol Open. 2021 Jan-Dec; 8: 2329048X211036137. Published online 2021 Aug 5. doi: 10.1177/2329048X211036137

PMCID:: PMC8371413

Article PDF–1.1M

Select item 83560128.

Novel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia

Benjamin Stampfl, Dominic Fee

Case Rep Neurol Med. 2021; 2021: 7797770. Published online 2021 Aug 2. doi: 10.1155/2021/7797770

PMCID:: PMC8356012

Article PDF–369K

Select item 73248169.

Systemic Inonotus sp. Infection in a dog

Yu FURUSAWA, Masashi TAKAHASHI, Tomoko IWANAGA, Akira YABUKI, Rui KANO, Hitoshi HATAI, Wako SUENO, Yasuyuki ENDO, Yasuyuki MOMOI

J Vet Med Sci. 2020 Jun; 82(6): 779–783. Published online 2020 May 4. doi: 10.1292/jvms.19-0455

PMCID:: PMC7324816

Article PDF–2.1M

Select item 705712710.

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

Swati R. Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M. Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F. Giampietro

Mol Genet Genomic Med. 2020 Mar; 8(3): e1078. Published online 2020 Jan 17. doi: 10.1002/mgg3.1078

PMCID:: PMC7057127

Article PDF–650K

Select item 673974111.

Distinct mutation in the feline coronavirus spike protein cleavage activation site in a cat with feline infectious peritonitis-associated meningoencephalomyelitis

Nicole M André, Brieuc Cossic, Emma Davies, Andrew D Miller, Gary R Whittaker

JFMS Open Rep. 2019 Jan-Jun; 5(1): 2055116919856103. Published online 2019 Jun 26. doi: 10.1177/2055116919856103

PMCID:: PMC6739741

Article PDF–730K

Select item 636820412.

Paraneoplastic opsoclonus–myoclonus syndrome as a rare presentation of breast cancer

Lisandra Martins, Diogo Galvão, Anaísa Silva, Bárbara Vieira, Óscar Reis, Rita Vitorino, Paula Pires

J Surg Case Rep. 2019 Feb; 2019(2): rjy365. Published online 2019 Feb 8. doi: 10.1093/jscr/rjy365

PMCID:: PMC6368204

Article PDF–71K

Select item 635344113.

Clinical Features in Border Terrier Dogs with Paroxysmal Involuntary Movements

Katia Marioni‐Henry, Clare Rusbridge, Holger A. Volk

Mov Disord Clin Pract. 2016 Jan-Feb; 3(1): 73–79. Published online 2015 Nov 23. doi: 10.1002/mdc3.12232

PMCID:: PMC6353441

Article PDF–118K

Select item 619871614.

Opsoclonus-Myoclonus Syndrome Associated With West-Nile Virus Infection: Case Report and Review of the Literature

Răzvan Alexandru Radu, Elena Oana Terecoasă, Amalia Ene, Ovidiu Alexandru Băjenaru, Cristina Tiu

Front Neurol. 2018; 9: 864. Published online 2018 Oct 16. doi: 10.3389/fneur.2018.00864

PMCID:: PMC6198716

Article PDF–330K

Select item 532976515.

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation

Parvaneh KARIMZADEH, Simin KHAYATZADEH KAKHKI, Shaghayegh Sadat ESMAIL NEJAD, Masood HOUSHMAND, Mohammad GHOFRANI

Iran J Child Neurol. 2017 Winter; 11(1): 78–81.

PMCID:: PMC5329765

Article PDF–211K

Select item 470189716.

Dancing eyes and dancing feet in scrub typhus

Neeraja Koti, Aswani S Mareddy, Shivashankara K Nagri, Chandrashekar U Kudru

Australas Med J. 2015; 8(12): 371–372. Published online 2015 Dec 31. doi: 10.4066/AMJ.2015.2514

PMCID:: PMC4701897

Article PDF–642K

Select item 340769417.

Anti-Yo and anti-glutamic acid decarboxylase antibodies presenting in carcinoma of the uterus with paraneoplastic cerebellar degeneration: a case report

Peter K Panegyres, Angela Graves

J Med Case Rep. 2012; 6: 155. Published online 2012 Jun 13. doi: 10.1186/1752-1947-6-155

PMCID:: PMC3407694

Article PDF–190K

Select item 280946918.

An Unusual Presentation of Vertigo: Is Head Titubation the Key to Diagnosis?

O. Judd, M. Medcalf

Int J Otolaryngol. 2009; 2009: 358019. Published online 2009 Feb 15. doi: 10.1155/2009/358019

PMCID:: PMC2809469

Article PDF–989K

Select item 252642719.

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

Article PDF–264K

Select item 137687620.

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

L Cavalier, K Ouahchi, H J Kayden, S Di Donato, L Reutenauer, J L Mandel, M Koenig

Am J Hum Genet. 1998 Feb; 62(2): 301–310. doi: 10.1086/301699

PMCID:: PMC1376876

Summary PDF–296K

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