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Bibliografía Científica

Artículos por temáticas

En este apartado encontrará una actualización mensual de artículos sobre Trastornos del Movimiento clasificados según los 11 tipos establecidos por la International Parkinson & Movement Disorder Society.

1993

32 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Glucose Transporter Type 1 Deficiency Syndrome

Wang D, Sands T, Tang M, Monani U, De Vivo D.

2002 Jul 30 [updated 2025 Mar 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

CDKL5 Deficiency Disorder

Benke TA, Demarest S, Angione K, Downs J, Leonard H, Saldaris J, Marsh ED, Olson H, Haviland I.

2024 Apr 11 [updated 2025 May 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

KMT2B-Related Disorders

Abela L, Kurian MA.

2018 Apr 26 [updated 2025 May 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

FOXG1 Syndrome

Brockmann K, Staudt M.

2024 Jun 6 [updated 2025 May 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

Phenylalanine Hydroxylase Deficiency

Arnold G, Vockley J.

2000 Jan 10 [updated 2025 Mar 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

SCN3A-Related Neurodevelopmental Disorder

Helbig KL, Goldberg EM.

2021 Jun 3 [updated 2025 May 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

Coffin-Siris Syndrome

Schrier Vergano S, Santen G, Wieczorek D, Matsumoto N.

2013 Apr 4 [updated 2025 May 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

Huppke-Brendel Syndrome

Parayil Sankaran B, Chiplunkar S, Vandana VP, Nagappa M, Govindaraj P, Taly AB.

2019 Jun 13 [updated 2025 Apr 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

MFN2 Hereditary Motor and Sensory Neuropathy

Züchner S.

2005 Feb 18 [updated 2025 Mar 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

KMT2B-Related Disorders

Abela L, Kurian MA.

2018 Apr 26 [updated 2025 May 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

Monogenic Parkinson Disease Overview

Morris H, Lim SY.

2004 May 25 [updated 2025 May 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

KMT2B-Related Disorders

Abela L, Kurian MA.

2018 Apr 26 [updated 2025 May 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

FOXG1 Syndrome

Brockmann K, Staudt M.

2024 Jun 6 [updated 2025 May 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Camacho J, Rioseco-Camacho N.

2012 May 31 [updated 2025 Apr 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

PUBMED

Incontinentia Pigmenti

Scheuerle AE, Ursini MV.

1999 Jun 8 [updated 2025 Apr 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

0

0

0

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