Literature DB >> 15520412

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.

G J Breedveld, B van Wetten, G D te Raa, E Brusse, J C van Swieten, B A Oostra, J A Maat-Kievit.   

Abstract

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Year:  2004        PMID： 15520412      PMCID： PMC1735612          DOI： 10.1136/jmg.2004.019232

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

Review 1.  An update on inherited ataxias.

Authors:  Tanja Schmitz-Hübsch; Thomas Klockgether
Journal:  Curr Neurol Neurosci Rep       Date:  2008-07       Impact factor: 5.081

Review 2.  Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Authors:  Susan L Cotman; Amel Karaa; John F Staropoli; Katherine B Sims
Journal:  Curr Neurol Neurosci Rep       Date:  2013-08       Impact factor: 5.081

Review 3.  Therapeutic landscape for Batten disease: current treatments and future prospects.

Authors:  Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer
Journal:  Nat Rev Neurol       Date:  2019-03       Impact factor: 42.937

4.  Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Authors:  Emma S Reid; Apostolos Papandreou; Suzanne Drury; Christopher Boustred; Wyatt W Yue; Yehani Wedatilake; Clare Beesley; Thomas S Jacques; Glenn Anderson; Lara Abulhoul; Alex Broomfield; Maureen Cleary; Stephanie Grunewald; Sophia M Varadkar; Nick Lench; Shamima Rahman; Paul Gissen; Peter T Clayton; Philippa B Mills
Journal:  Brain       Date:  2016-11-01       Impact factor: 13.501

5.  A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Authors:  Huma Tariq; Rashid Imran; Sadaf Naz
Journal:  J Clin Neurol       Date:  2018-07-12       Impact factor: 3.077

6.  Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

Authors:  Eva Wibbeler; Raymond Wang; Emily de Los Reyes; Nicola Specchio; Paul Gissen; Norberto Guelbert; Miriam Nickel; Christoph Schwering; Lenora Lehwald; Marina Trivisano; Laura Lee; Gianni Amato; Jessica Cohen-Pfeffer; Renée Shediac; Fernanda Leal-Pardinas; Angela Schulz
Journal:  J Child Neurol       Date:  2020-12-23       Impact factor: 1.987

7.  The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

Authors:  David A Parfitt; Gregory J Michael; Esmeralda G M Vermeulen; Natalia V Prodromou; Tom R Webb; Jean-Marc Gallo; Michael E Cheetham; William S Nicoll; Gregory L Blatch; J Paul Chapple
Journal:  Hum Mol Genet       Date:  2009-02-10       Impact factor: 6.150

8.  Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

Authors:  Agnieszka Ługowska; Joanna K Purzycka-Olewiecka; Rafał Płoski; Grażyna Truszkowska; Maciej Pronicki; Paulina Felczak; Mateusz Śpiewak; Aleksandra Podlecka-Piętowska; Martyna Sitek; Zofia T Bilińska; Przemysław Leszek; Małgorzata Bednarska-Makaruk
Journal:  Life (Basel)       Date:  2021-12-21
  8 in total

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