Publications:

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Paroxysmal Movement Disorders.

Frontiers In Neurology

Harvey, Susan S; King, Mary D MD; Gorman, Kathleen M KM

Publication Date: 2021

Variant appearance in text: PNKD: Ala7Val

PubMed Link: 34177764

Variant Present in the following documents:

• Main text
• fneur-12-659064.pdf

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Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

International Journal Of Molecular Sciences

Garone, Giacomo G; Capuano, Alessandro A; Travaglini, Lorena L; Graziola, Federica F; Stregapede, Fabrizia F; Zanni, Ginevra G; Vigevano, Federico F; Bertini, Enrico E; Nicita, Francesco F

Publication Date: 2020-05-20

Variant appearance in text: PNKD: A7V

PubMed Link: 32443735

Variant Present in the following documents:

• Main text
• ijms-21-03603.pdf

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: PNKD: 20C>T; rs121434512

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

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The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Brain : A Journal Of Neurology

Gardiner, Alice R AR; Jaffer, Fatima F; Dale, Russell C RC; Labrum, Robyn R; Erro, Roberto R; Meyer, Esther E; Xiromerisiou, Georgia G; Stamelou, Maria M; Walker, Matthew M; Kullmann, Dimitri D; Warner, Tom T; Jarman, Paul P; Hanna, Mike M; Kurian, Manju A MA; Bhatia, Kailash P KP; Houlden, Henry H

Publication Date: 2015-12

Variant appearance in text: PNKD: A7V

PubMed Link: 26598494

Variant Present in the following documents:

• Main text
• awv310.pdf

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Repository of mutations from Oman: The entry point to a national mutation database.

F1000Research

Rajab, Anna A; Hamza, Nishath N; Al Harasi, Salma S; Al Lawati, Fatma F; Gibbons, Una U; Al Alawi, Intesar I; Kobus, Karoline K; Hassan, Suha S; Mahir, Ghariba G; Al Salmi, Qasim Q; Mons, Barend B; Robinson, Peter P

Publication Date: 2015

Variant appearance in text: MR-1: 20C>T

PubMed Link: 26594346

Variant Present in the following documents:

• Main text

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The genetics of dystonia: new twists in an old tale.

Brain : A Journal Of Neurology

Charlesworth, Gavin G; Bhatia, Kailash P KP; Wood, Nicholas W NW

Publication Date: 2013-07

Variant appearance in text: PNKD: Ala7Val

PubMed Link: 23775978

Variant Present in the following documents:

• Main text
• awt138.pdf

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The genetics of dystonias.

Advances In Genetics

LeDoux, Mark S MS

Publication Date: 2012

Variant appearance in text: PNKD: A7V

PubMed Link: 22989765

Variant Present in the following documents:

• Main text

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