These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

296 related articles for article (PubMed ID: 25609763)

  • 21. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
    Strickland AV; Schabhüttl M; Offenbacher H; Synofzik M; Hauser NS; Brunner-Krainz M; Gruber-Sedlmayr U; Moore SA; Windhager R; Bender B; Harms M; Klebe S; Young P; Kennerson M; Garcia AS; Gonzalez MA; Züchner S; Schule R; Shy ME; Auer-Grumbach M
    J Neurol; 2015 Sep; 262(9):2124-34. PubMed ID: 26100331
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Two cases of DYNC1H1 mutations with intractable epilepsy.
    Matsumoto A; Kojima K; Miya F; Miyauchi A; Watanabe K; Iwamoto S; Kawai K; Kato M; Takahashi Y; Yamagata T
    Brain Dev; 2021 Sep; 43(8):857-862. PubMed ID: 34092403
    [TBL] [Abstract][Full Text] [Related]  

  • 23. DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.
    Hoang HT; Schlager MA; Carter AP; Bullock SL
    Proc Natl Acad Sci U S A; 2017 Feb; 114(9):E1597-E1606. PubMed ID: 28196890
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].
    Yang CJ; Wang S; Tan DD; Liu YD; Fan YB; Wei CJ; Song DY; Zhu Y; Xiong H
    Zhonghua Er Ke Za Zhi; 2023 Feb; 61(2):154-158. PubMed ID: 36720598
    [No Abstract]   [Full Text] [Related]  

  • 25. Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.
    Mercuri E; Messina S; Kinali M; Cini C; Longman C; Battini R; Cioni G; Muntoni F
    Neuromuscul Disord; 2004 Feb; 14(2):125-9. PubMed ID: 14733958
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2.
    Yoshioka M; Morisada N; Toyoshima D; Yoshimura H; Nishio H; Iijima K; Takeshima Y; Uehara T; Kosaki K
    Brain Dev; 2018 Apr; 40(4):343-347. PubMed ID: 29273277
    [TBL] [Abstract][Full Text] [Related]  

  • 27. DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy.
    Garrett CA; Barri M; Kuta A; Soura V; Deng W; Fisher EM; Schiavo G; Hafezparast M
    Brain; 2014 Jul; 137(Pt 7):1883-93. PubMed ID: 24755273
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture.
    Romero DM; Zaidi D; Cifuentes-Diaz C; Maillard C; Grannec G; Selloum M; Birling MC; Bahi-Buisson N; Francis F
    Neurobiol Dis; 2023 May; 180():106085. PubMed ID: 36933672
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.
    Oates EC; Reddel S; Rodriguez ML; Gandolfo LC; Bahlo M; Hawke SH; Lamandé SR; Clarke NF; North KN
    Brain; 2012 Jun; 135(Pt 6):1714-23. PubMed ID: 22628388
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
    Willemsen MH; Vissers LE; Willemsen MA; van Bon BW; Kroes T; de Ligt J; de Vries BB; Schoots J; Lugtenberg D; Hamel BC; van Bokhoven H; Brunner HG; Veltman JA; Kleefstra T
    J Med Genet; 2012 Mar; 49(3):179-83. PubMed ID: 22368300
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
    Hahnen E; Forkert R; Marke C; Rudnik-Schöneborn S; Schönling J; Zerres K; Wirth B
    Hum Mol Genet; 1995 Oct; 4(10):1927-33. PubMed ID: 8595417
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy.
    Ji C; Wu D; Wang K
    Neurol Sci; 2022 Apr; 43(4):2853-2858. PubMed ID: 35088241
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
    Rudnik-Schöneborn S; Deden F; Eggermann K; Eggermann T; Wieczorek D; Sellhaus B; Yamoah A; Goswami A; Claeys KG; Weis J; Zerres K
    Muscle Nerve; 2016 Sep; 54(3):496-500. PubMed ID: 26998597
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.
    Harms MB; Allred P; Gardner R; Fernandes Filho JA; Florence J; Pestronk A; Al-Lozi M; Baloh RH
    Neurology; 2010 Aug; 75(6):539-46. PubMed ID: 20697106
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Missense mutation in
    Ding FJ; Lyu GZ; Zhang VW; Jin H
    World J Clin Cases; 2021 Oct; 9(30):9302-9309. PubMed ID: 34786417
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
    Storbeck M; Horsberg Eriksen B; Unger A; Hölker I; Aukrust I; Martínez-Carrera LA; Linke WA; Ferbert A; Heller R; Vorgerd M; Houge G; Wirth B
    Eur J Hum Genet; 2017 Sep; 25(9):1040-1048. PubMed ID: 28635954
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.
    Fang YL; Li N; Zhi XF; Zheng J; Liu Y; Pu LJ; Gu CY; Shu JB; Cai CQ
    Neurol Sci; 2021 May; 42(5):1827-1833. PubMed ID: 32895776
    [TBL] [Abstract][Full Text] [Related]  

  • 38. SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype.
    Picher-Martel V; Morin C; Brunet D; Dionne A
    Neuromuscul Disord; 2020 Aug; 30(8):669-673. PubMed ID: 32709491
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A Novel
    Derksen A; Mirchi A; Tran LT; Cao-Lei L; Oskoui M; Srour M; Poulin C; ; Bernard G
    Child Neurol Open; 2021; 8():2329048X211027438. PubMed ID: 34368388
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.
    Laquerriere A; Maillard C; Cavallin M; Chapon F; Marguet F; Molin A; Sigaudy S; Blouet M; Benoist G; Fernandez C; Poirier K; Chelly J; Thomas S; Bahi-Buisson N
    J Neuropathol Exp Neurol; 2017 Mar; 76(3):195-205. PubMed ID: 28395088
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.