May Christine V Malicdan

May Christine V Malicdan

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May Christine V Malicdan

Publications by authors named "May Christine V Malicdan"

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Bleomycin Induces Drug Efflux in Lungs: A pitfall for Pharmacological Studies of Pulmonary Fibrosis.

Am J Respir Cell Mol Biol 2019 Aug 16. Epub 2019 Aug 16.

National Institute on Alcohol Abuse and Alcoholism, 8387, Laboratory of Physiological Studies, Bethesda, Maryland, United States;

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http://dx.doi.org/10.1165/rcmb.2018-0147OCDOI Listing
August 2019

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Mol Genet Metab 2019 Aug 14. Epub 2019 Aug 14.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.08.003DOI Listing
August 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 Jun 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

PLoS Genet 2019 May 24;15(5):e1008143. Epub 2019 May 24.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1008143
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http://dx.doi.org/10.1371/journal.pgen.1008143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534290PMC
May 2019

Glycomics in rare diseases: from diagnosis tomechanism.

Transl Res 2019 04 23;206:5-17. Epub 2018 Oct 23.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19315244183018
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http://dx.doi.org/10.1016/j.trsl.2018.10.005DOI Listing
April 2019

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Mol Genet Metab 2019 02 3;126(2):188-195. Epub 2018 Dec 3.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.001DOI Listing
February 2019

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.

Am J Med Genet A 2018 12 4;176(12):2930-2933. Epub 2018 Dec 4.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.40658DOI Listing
December 2018

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Neurol Genet 2018 Jun 8;4(3):e240. Epub 2018 Jun 8.

Department of Neurology (N.M.S., M.D.G.), University of California San Francisco, CA; Laboratory of Cancer Biology and Genetics (J.J.D., K.H.K.), Center for Cancer Research, National Cancer Institute, National Institutes of Health; NIH Undiagnosed Diseases Program (C.G., R.G., M.C.V.M., W.A.G., C.T.), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Department of Molecular Medicine (M.J.Y., E.A.W., L.J.N.), Center on Aging, The Scripps Research Institute, Jupiter, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994703PMC
June 2018

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

BMC Med Genet 2018 05 16;19(1):80. Epub 2018 May 16.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12881-018-0597-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956920PMC
May 2018

Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

Hum Genet 2018 Apr 24;137(4):293-303. Epub 2018 Apr 24.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s00439-018-1882-3DOI Listing
April 2018

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Dev Med Child Neurol 2017 12 1;59(12):1307-1311. Epub 2017 Aug 1.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/dmcn.13509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685901PMC
December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Mol Genet Metab 2017 04 27;120(4):378-383. Epub 2017 Feb 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395203PMC
April 2017

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Am J Med Genet A 2017 Mar 4;173(3):661-666. Epub 2017 Jan 4.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38005DOI Listing
March 2017

Abnormal glycosylation in Joubert syndrome type 10.

Cilia 2017 23;6. Epub 2017 Mar 23.

NIH Undiagnosed Disease Program, Common Fund, Office of the Director, and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.

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http://dx.doi.org/10.1186/s13630-017-0048-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364566PMC
March 2017

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

PLoS Genet 2017 02 3;13(2):e1006481. Epub 2017 Feb 3.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291374PMC
February 2017

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2017 02;88(7):e57-e65

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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http://dx.doi.org/10.1212/WNL.0000000000003622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584077PMC
February 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Hum Mutat 2016 11 21;37(11):1144-1148. Epub 2016 Aug 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/humu.23054DOI Listing
November 2016

An Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.

J Mol Genet Med 2016 Jun 19;10(2). Epub 2016 Jun 19.

Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran; NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.4172/1747-0862.1000222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4969076PMC
June 2016

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

J Med Genet 2015 Dec 18;52(12):830-9. Epub 2015 Sep 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517294PMC
December 2015

Atypical presentation of GNE myopathy with asymmetric hand weakness.

Neuromuscul Disord 2014 Dec 7;24(12):1063-7. Epub 2014 Aug 7.

Therapeutics for Rare and Neglected Diseases (TRND), National Center for Advancing Translational Sciences (NCATS), NIH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259851PMC
December 2014

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.

Brain 2014 Oct 24;137(Pt 10):2670-9. Epub 2014 Jul 24.

1 Department of Neuromuscular Research, National Institute of Neuroscience, National Centre of Neurology and Psychiatry (NCNP), Tokyo, Japan 4 Department of Clinical Development, Translational Medical Centre, NCNP, Tokyo, Japan

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http://brain.oxfordjournals.org/content/brain/early/2014/07/
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172045PMC
October 2014

Mutation update for GNE gene variants associated with GNE myopathy.

Hum Mutat 2014 Aug;35(8):915-26

Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/humu.22583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172345PMC
August 2014

GNE myopathy: new name and new mutation nomenclature.

Neuromuscul Disord 2014 May 13;24(5):387-9. Epub 2014 Mar 13.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2014.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015343PMC
May 2014

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

PLoS One 2012 14;7(12):e52002. Epub 2012 Dec 14.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0052002PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522649PMC
September 2013

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

Clin Neurol Neurosurg 2012 Jul 19;114(6):678-83. Epub 2012 May 19.

Department of Neurology, National Center Hospital of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

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http://dx.doi.org/10.1016/j.clineuro.2011.10.040DOI Listing
July 2012

Guidelines for the use and interpretation of assays for monitoring autophagy.

Authors:
Daniel J Klionsky Fabio C Abdalla Hagai Abeliovich Robert T Abraham Abraham Acevedo-Arozena Khosrow Adeli Lotta Agholme Maria Agnello Patrizia Agostinis Julio A Aguirre-Ghiso Hyung Jun Ahn Ouardia Ait-Mohamed Slimane Ait-Si-Ali Takahiko Akematsu Shizuo Akira Hesham M Al-Younes Munir A Al-Zeer Matthew L Albert Roger L Albin Javier Alegre-Abarrategui Maria Francesca Aleo Mehrdad Alirezaei Alexandru Almasan Maylin Almonte-Becerril Atsuo Amano Ravi Amaravadi Shoba Amarnath Amal O Amer Nathalie Andrieu-Abadie Vellareddy Anantharam David K Ann Shailendra Anoopkumar-Dukie Hiroshi Aoki Nadezda Apostolova Giuseppe Arancia John P Aris Katsuhiko Asanuma Nana Y O Asare Hisashi Ashida Valerie Askanas David S Askew Patrick Auberger Misuzu Baba Steven K Backues Eric H Baehrecke Ben A Bahr Xue-Yuan Bai Yannick Bailly Robert Baiocchi Giulia Baldini Walter Balduini Andrea Ballabio Bruce A Bamber Edward T W Bampton Gábor Bánhegyi Clinton R Bartholomew Diane C Bassham Robert C Bast Henri Batoko Boon-Huat Bay Isabelle Beau Daniel M Béchet Thomas J Begley Christian Behl Christian Behrends Soumeya Bekri Bryan Bellaire Linda J Bendall Luca Benetti Laura Berliocchi Henri Bernardi Francesca Bernassola Sébastien Besteiro Ingrid Bhatia-Kissova Xiaoning Bi Martine Biard-Piechaczyk Janice S Blum Lawrence H Boise Paolo Bonaldo David L Boone Beat C Bornhauser Karina R Bortoluci Ioannis Bossis Frédéric Bost Jean-Pierre Bourquin Patricia Boya Michaël Boyer-Guittaut Peter V Bozhkov Nathan R Brady Claudio Brancolini Andreas Brech Jay E Brenman Ana Brennand Emery H Bresnick Patrick Brest Dave Bridges Molly L Bristol Paul S Brookes Eric J Brown John H Brumell Nicola Brunetti-Pierri Ulf T Brunk Dennis E Bulman Scott J Bultman Geert Bultynck Lena F Burbulla Wilfried Bursch Jonathan P Butchar Wanda Buzgariu Sergio P Bydlowski Ken Cadwell Monika Cahová Dongsheng Cai Jiyang Cai Qian Cai Bruno Calabretta Javier Calvo-Garrido Nadine Camougrand Michelangelo Campanella Jenny Campos-Salinas Eleonora Candi Lizhi Cao Allan B Caplan Simon R Carding Sandra M Cardoso Jennifer S Carew Cathleen R Carlin Virginie Carmignac Leticia A M Carneiro Serena Carra Rosario A Caruso Giorgio Casari Caty Casas Roberta Castino Eduardo Cebollero Francesco Cecconi Jean Celli Hassan Chaachouay Han-Jung Chae Chee-Yin Chai David C Chan Edmond Y Chan Raymond Chuen-Chung Chang Chi-Ming Che Ching-Chow Chen Guang-Chao Chen Guo-Qiang Chen Min Chen Quan Chen Steve S-L Chen WenLi Chen Xi Chen Xiangmei Chen Xiequn Chen Ye-Guang Chen Yingyu Chen Yongqiang Chen Yu-Jen Chen Zhixiang Chen Alan Cheng Christopher H K Cheng Yan Cheng Heesun Cheong Jae-Ho Cheong Sara Cherry Russ Chess-Williams Zelda H Cheung Eric Chevet Hui-Ling Chiang Roberto Chiarelli Tomoki Chiba Lih-Shen Chin Shih-Hwa Chiou Francis V Chisari Chi Hin Cho Dong-Hyung Cho Augustine M K Choi DooSeok Choi Kyeong Sook Choi Mary E Choi Salem Chouaib Divaker Choubey Vinay Choubey Charleen T Chu Tsung-Hsien Chuang Sheau-Huei Chueh Taehoon Chun Yong-Joon Chwae Mee-Len Chye Roberto Ciarcia Maria R Ciriolo Michael J Clague Robert S B Clark Peter G H Clarke Robert Clarke Patrice Codogno Hilary A Coller María I Colombo Sergio Comincini Maria Condello Fabrizio Condorelli Mark R Cookson Graham H Coombs Isabelle Coppens Ramon Corbalan Pascale Cossart Paola Costelli Safia Costes Ana Coto-Montes Eduardo Couve Fraser P Coxon James M Cregg José L Crespo Marianne J Cronjé Ana Maria Cuervo Joseph J Cullen Mark J Czaja Marcello D'Amelio Arlette Darfeuille-Michaud Lester M Davids Faith E Davies Massimo De Felici John F de Groot Cornelis A M de Haan Luisa De Martino Angelo De Milito Vincenzo De Tata Jayanta Debnath Alexei Degterev Benjamin Dehay Lea M D Delbridge Francesca Demarchi Yi Zhen Deng Jörn Dengjel Paul Dent Donna Denton Vojo Deretic Shyamal D Desai Rodney J Devenish Mario Di Gioacchino Gilbert Di Paolo Chiara Di Pietro Guillermo Díaz-Araya Inés Díaz-Laviada Maria T Diaz-Meco Javier Diaz-Nido Ivan Dikic Savithramma P Dinesh-Kumar Wen-Xing Ding Clark W Distelhorst Abhinav Diwan Mojgan Djavaheri-Mergny Svetlana Dokudovskaya Zheng Dong Frank C Dorsey Victor Dosenko James J Dowling Stephen Doxsey Marlène Dreux Mark E Drew Qiuhong Duan Michel A Duchosal Karen Duff Isabelle Dugail Madeleine Durbeej Michael Duszenko Charles L Edelstein Aimee L Edinger Gustavo Egea Ludwig Eichinger N Tony Eissa Suhendan Ekmekcioglu Wafik S El-Deiry Zvulun Elazar Mohamed Elgendy Lisa M Ellerby Kai Er Eng Anna-Mart Engelbrecht Simone Engelender Jekaterina Erenpreisa Ricardo Escalante Audrey Esclatine Eeva-Liisa Eskelinen Lucile Espert Virginia Espina Huizhou Fan Jia Fan Qi-Wen Fan Zhen Fan Shengyun Fang Yongqi Fang Manolis Fanto Alessandro Fanzani Thomas Farkas Jean-Claude Farré Mathias Faure Marcus Fechheimer Carl G Feng Jian Feng Qili Feng Youji Feng László Fésüs Ralph Feuer Maria E Figueiredo-Pereira Gian Maria Fimia Diane C Fingar Steven Finkbeiner Toren Finkel Kim D Finley Filomena Fiorito Edward A Fisher Paul B Fisher Marc Flajolet Maria L Florez-McClure Salvatore Florio Edward A Fon Francesco Fornai Franco Fortunato Rati Fotedar Daniel H Fowler Howard S Fox Rodrigo Franco Lisa B Frankel Marc Fransen José M Fuentes Juan Fueyo Jun Fujii Kozo Fujisaki Eriko Fujita Mitsunori Fukuda Ruth H Furukawa Matthias Gaestel Philippe Gailly Malgorzata Gajewska Brigitte Galliot Vincent Galy Subramaniam Ganesh Barry Ganetzky Ian G Ganley Fen-Biao Gao George F Gao Jinming Gao Lorena Garcia Guillermo Garcia-Manero Mikel Garcia-Marcos Marjan Garmyn Andrei L Gartel Evelina Gatti Mathias Gautel Thomas R Gawriluk Matthew E Gegg Jiefei Geng Marc Germain Jason E Gestwicki David A Gewirtz Saeid Ghavami Pradipta Ghosh Anna M Giammarioli Alexandra N Giatromanolaki Spencer B Gibson Robert W Gilkerson Michael L Ginger Henry N Ginsberg Jakub Golab Michael S Goligorsky Pierre Golstein Candelaria Gomez-Manzano Ebru Goncu Céline Gongora Claudio D Gonzalez Ramon Gonzalez Cristina González-Estévez Rosa Ana González-Polo Elena Gonzalez-Rey Nikolai V Gorbunov Sharon Gorski Sandro Goruppi Roberta A Gottlieb Devrim Gozuacik Giovanna Elvira Granato Gary D Grant Kim N Green Aleš Gregorc Frédéric Gros Charles Grose Thomas W Grunt Philippe Gual Jun-Lin Guan Kun-Liang Guan Sylvie M Guichard Anna S Gukovskaya Ilya Gukovsky Jan Gunst Asa B Gustafsson Andrew J Halayko Amber N Hale Sandra K Halonen Maho Hamasaki Feng Han Ting Han Michael K Hancock Malene Hansen Hisashi Harada Masaru Harada Stefan E Hardt J Wade Harper Adrian L Harris James Harris Steven D Harris Makoto Hashimoto Jeffrey A Haspel Shin-ichiro Hayashi Lori A Hazelhurst Congcong He You-Wen He Marie-Joseé Hébert Kim A Heidenreich Miep H Helfrich Gudmundur V Helgason Elizabeth P Henske Brian Herman Paul K Herman Claudio Hetz Sabine Hilfiker Joseph A Hill Lynne J Hocking Paul Hofman Thomas G Hofmann Jörg Höhfeld Tessa L Holyoake Ming-Huang Hong David A Hood Gökhan S Hotamisligil Ewout J Houwerzijl Maria Høyer-Hansen Bingren Hu Chien-An A Hu Hong-Ming Hu Ya Hua Canhua Huang Ju Huang Shengbing Huang Wei-Pang Huang Tobias B Huber Won-Ki Huh Tai-Ho Hung Ted R Hupp Gang Min Hur James B Hurley Sabah N A Hussain Patrick J Hussey Jung Jin Hwang Seungmin Hwang Atsuhiro Ichihara Shirin Ilkhanizadeh Ken Inoki Takeshi Into Valentina Iovane Juan L Iovanna Nancy Y Ip Yoshitaka Isaka Hiroyuki Ishida Ciro Isidoro Ken-ichi Isobe Akiko Iwasaki Marta Izquierdo Yotaro Izumi Panu M Jaakkola Marja Jäättelä George R Jackson William T Jackson Bassam Janji Marina Jendrach Ju-Hong Jeon Eui-Bae Jeung Hong Jiang Hongchi Jiang Jean X Jiang Ming Jiang Qing Jiang Xuejun Jiang Xuejun Jiang Alberto Jiménez Meiyan Jin Shengkan Jin Cheol O Joe Terje Johansen Daniel E Johnson Gail V W Johnson Nicola L Jones Bertrand Joseph Suresh K Joseph Annie M Joubert Gábor Juhász Lucienne Juillerat-Jeanneret Chang Hwa Jung Yong-Keun Jung Kai Kaarniranta Allen Kaasik Tomohiro Kabuta Motoni Kadowaki Katarina Kagedal Yoshiaki Kamada Vitaliy O Kaminskyy Harm H Kampinga Hiromitsu Kanamori Chanhee Kang Khong Bee Kang Kwang Il Kang Rui Kang Yoon-A Kang Tomotake Kanki Thirumala-Devi Kanneganti Haruo Kanno Anumantha G Kanthasamy Arthi Kanthasamy Vassiliki Karantza Gur P Kaushal Susmita Kaushik Yoshinori Kawazoe Po-Yuan Ke John H Kehrl Ameeta Kelekar Claus Kerkhoff David H Kessel Hany Khalil Jan A K W Kiel Amy A Kiger Akio Kihara Deok Ryong Kim Do-Hyung Kim Dong-Hou Kim Eun-Kyoung Kim Hyung-Ryong Kim Jae-Sung Kim Jeong Hun Kim Jin Cheon Kim John K Kim Peter K Kim Seong Who Kim Yong-Sun Kim Yonghyun Kim Adi Kimchi Alec C Kimmelman Jason S King Timothy J Kinsella Vladimir Kirkin Lorrie A Kirshenbaum Katsuhiko Kitamoto Kaio Kitazato Ludger Klein Walter T Klimecki Jochen Klucken Erwin Knecht Ben C B Ko Jan C Koch Hiroshi Koga Jae-Young Koh Young Ho Koh Masato Koike Masaaki Komatsu Eiki Kominami Hee Jeong Kong Wei-Jia Kong Viktor I Korolchuk Yaichiro Kotake Michael I Koukourakis Juan B Kouri Flores Attila L Kovács Claudine Kraft Dimitri Krainc Helmut Krämer Carole Kretz-Remy Anna M Krichevsky Guido Kroemer Rejko Krüger Oleg Krut Nicholas T Ktistakis Chia-Yi Kuan Roza Kucharczyk Ashok Kumar Raj Kumar Sharad Kumar Mondira Kundu Hsing-Jien Kung Tino Kurz Ho Jeong Kwon Albert R La Spada Frank Lafont Trond Lamark Jacques Landry Jon D Lane Pierre Lapaquette Jocelyn F Laporte Lajos László Sergio Lavandero Josée N Lavoie Robert Layfield Pedro A Lazo Weidong Le Laurent Le Cam Daniel J Ledbetter Alvin J X Lee Byung-Wan Lee Gyun Min Lee Jongdae Lee Ju-Hyun Lee Michael Lee Myung-Shik Lee Sug Hyung Lee Christiaan Leeuwenburgh Patrick Legembre Renaud Legouis Michael Lehmann Huan-Yao Lei Qun-Ying Lei David A Leib José Leiro John J Lemasters Antoinette Lemoine Maciej S Lesniak Dina Lev Victor V Levenson Beth Levine Efrat Levy Faqiang Li Jun-Lin Li Lian Li Sheng Li Weijie Li Xue-Jun Li Yan-bo Li Yi-Ping Li Chengyu Liang Qiangrong Liang Yung-Feng Liao Pawel P Liberski Andrew Lieberman Hyunjung J Lim Kah-Leong Lim Kyu Lim Chiou-Feng Lin Fu-Cheng Lin Jian Lin Jiandie D Lin Kui Lin Wan-Wan Lin Weei-Chin Lin Yi-Ling Lin Rafael Linden Paul Lingor Jennifer Lippincott-Schwartz Michael P Lisanti Paloma B Liton Bo Liu Chun-Feng Liu Kaiyu Liu Leyuan Liu Qiong A Liu Wei Liu Young-Chau Liu Yule Liu Richard A Lockshin Chun-Nam Lok Sagar Lonial Benjamin Loos Gabriel Lopez-Berestein Carlos López-Otín Laura Lossi Michael T Lotze Peter Lőw Binfeng Lu Bingwei Lu Bo Lu Zhen Lu Frédéric Luciano Nicholas W Lukacs Anders H Lund Melinda A Lynch-Day Yong Ma Fernando Macian Jeff P MacKeigan Kay F Macleod Frank Madeo Luigi Maiuri Maria Chiara Maiuri Davide Malagoli May Christine V Malicdan Walter Malorni Na Man Eva-Maria Mandelkow Stéphen Manon Irena Manov Kai Mao Xiang Mao Zixu Mao Philippe Marambaud Daniela Marazziti Yves L Marcel Katie Marchbank Piero Marchetti Stefan J Marciniak Mateus Marcondes Mohsen Mardi Gabriella Marfe Guillermo Mariño Maria Markaki Mark R Marten Seamus J Martin Camille Martinand-Mari Wim Martinet Marta Martinez-Vicente Matilde Masini Paola Matarrese Saburo Matsuo Raffaele Matteoni Andreas Mayer Nathalie M Mazure David J McConkey Melanie J McConnell Catherine McDermott Christine McDonald Gerald M McInerney Sharon L McKenna BethAnn McLaughlin Pamela J McLean Christopher R McMaster G Angus McQuibban Alfred J Meijer Miriam H Meisler Alicia Meléndez Thomas J Melia Gerry Melino Maria A Mena Javier A Menendez Rubem F S Menna-Barreto Manoj B Menon Fiona M Menzies Carol A Mercer Adalberto Merighi Diane E Merry Stefania Meschini Christian G Meyer Thomas F Meyer Chao-Yu Miao Jun-Ying Miao Paul A M Michels Carine Michiels Dalibor Mijaljica Ana Milojkovic Saverio Minucci Clelia Miracco Cindy K Miranti Ioannis Mitroulis Keisuke Miyazawa Noboru Mizushima Baharia Mograbi Simin Mohseni Xavier Molero Bertrand Mollereau Faustino Mollinedo Takashi Momoi Iryna Monastyrska Martha M Monick Mervyn J Monteiro Michael N Moore Rodrigo Mora Kevin Moreau Paula I Moreira Yuji Moriyasu Jorge Moscat Serge Mostowy Jeremy C Mottram Tomasz Motyl Charbel E-H Moussa Sylke Müller Sylviane Muller Karl Münger Christian Münz Leon O Murphy Maureen E Murphy Antonio Musarò Indira Mysorekar Eiichiro Nagata Kazuhiro Nagata Aimable Nahimana Usha Nair Toshiyuki Nakagawa Kiichi Nakahira Hiroyasu Nakano Hitoshi Nakatogawa Meera Nanjundan Naweed I Naqvi Derek P Narendra Masashi Narita Miguel Navarro Steffan T Nawrocki Taras Y Nazarko Andriy Nemchenko Mihai G Netea Thomas P Neufeld Paul A Ney Ioannis P Nezis Huu Phuc Nguyen Daotai Nie Ichizo Nishino Corey Nislow Ralph A Nixon Takeshi Noda Angelika A Noegel Anna Nogalska Satoru Noguchi Lucia Notterpek Ivana Novak Tomoyoshi Nozaki Nobuyuki Nukina Thorsten Nürnberger Beat Nyfeler Keisuke Obara Terry D Oberley Salvatore Oddo Michinaga Ogawa Toya Ohashi Koji Okamoto Nancy L Oleinick F Javier Oliver Laura J Olsen Stefan Olsson Onya Opota Timothy F Osborne Gary K Ostrander Kinya Otsu Jing-hsiung James Ou Mireille Ouimet Michael Overholtzer Bulent Ozpolat Paolo Paganetti Ugo Pagnini Nicolas Pallet Glen E Palmer Camilla Palumbo Tianhong Pan Theocharis Panaretakis Udai Bhan Pandey Zuzana Papackova Issidora Papassideri Irmgard Paris Junsoo Park Ohkmae K Park Jan B Parys Katherine R Parzych Susann Patschan Cam Patterson Sophie Pattingre John M Pawelek Jianxin Peng David H Perlmutter Ida Perrotta George Perry Shazib Pervaiz Matthias Peter Godefridus J Peters Morten Petersen Goran Petrovski James M Phang Mauro Piacentini Philippe Pierre Valérie Pierrefite-Carle Gérard Pierron Ronit Pinkas-Kramarski Antonio Piras Natik Piri Leonidas C Platanias Stefanie Pöggeler Marc Poirot Angelo Poletti Christian Poüs Mercedes Pozuelo-Rubio Mette Prætorius-Ibba Anil Prasad Mark Prescott Muriel Priault Nathalie Produit-Zengaffinen Ann Progulske-Fox Tassula Proikas-Cezanne Serge Przedborski Karin Przyklenk Rosa Puertollano Julien Puyal Shu-Bing Qian Liang Qin Zheng-Hong Qin Susan E Quaggin Nina Raben Hannah Rabinowich Simon W Rabkin Irfan Rahman Abdelhaq Rami Georg Ramm Glenn Randall Felix Randow V Ashutosh Rao Jeffrey C Rathmell Brinda Ravikumar Swapan K Ray Bruce H Reed John C Reed Fulvio Reggiori Anne Régnier-Vigouroux Andreas S Reichert John J Reiners Russel J Reiter Jun Ren José L Revuelta Christopher J Rhodes Konstantinos Ritis Elizete Rizzo Jeffrey Robbins Michel Roberge Hernan Roca Maria C Roccheri Stephane Rocchi H Peter Rodemann Santiago Rodríguez de Córdoba Bärbel Rohrer Igor B Roninson Kirill Rosen Magdalena M Rost-Roszkowska Mustapha Rouis Kasper M A Rouschop Francesca Rovetta Brian P Rubin David C Rubinsztein Klaus Ruckdeschel Edmund B Rucker Assaf Rudich Emil Rudolf Nelson Ruiz-Opazo Rossella Russo Tor Erik Rusten Kevin M Ryan Stefan W Ryter David M Sabatini Junichi Sadoshima Tapas Saha Tatsuya Saitoh Hiroshi Sakagami Yasuyoshi Sakai Ghasem Hoseini Salekdeh Paolo Salomoni Paul M Salvaterra Guy Salvesen Rosa Salvioli Anthony M J Sanchez José A Sánchez-Alcázar Ricardo Sánchez-Prieto Marco Sandri Uma Sankar Poonam Sansanwal Laura Santambrogio Shweta Saran Sovan Sarkar Minnie Sarwal Chihiro Sasakawa Ausra Sasnauskiene Miklós Sass Ken Sato Miyuki Sato Anthony H V Schapira Michael Scharl Hermann M Schätzl Wiep Scheper Stefano Schiaffino Claudio Schneider Marion E Schneider Regine Schneider-Stock Patricia V Schoenlein Daniel F Schorderet Christoph Schüller Gary K Schwartz Luca Scorrano Linda Sealy Per O Seglen Juan Segura-Aguilar Iban Seiliez Oleksandr Seleverstov Christian Sell Jong Bok Seo Duska Separovic Vijayasaradhi Setaluri Takao Setoguchi Carmine Settembre John J Shacka Mala Shanmugam Irving M Shapiro Eitan Shaulian Reuben J Shaw James H Shelhamer Han-Ming Shen Wei-Chiang Shen Zu-Hang Sheng Yang Shi Kenichi Shibuya Yoshihiro Shidoji Jeng-Jer Shieh Chwen-Ming Shih Yohta Shimada Shigeomi Shimizu Takahiro Shintani Orian S Shirihai Gordon C Shore Andriy A Sibirny Stan B Sidhu Beata Sikorska Elaine C M Silva-Zacarin Alison Simmons Anna Katharina Simon Hans-Uwe Simon Cristiano Simone Anne Simonsen David A Sinclair Rajat Singh Debasish Sinha Frank A Sinicrope Agnieszka Sirko Parco M Siu Efthimios Sivridis Vojtech Skop Vladimir P Skulachev Ruth S Slack Soraya S Smaili Duncan R Smith Maria S Soengas Thierry Soldati Xueqin Song Anil K Sood Tuck Wah Soong Federica Sotgia Stephen A Spector Claudia D Spies Wolfdieter Springer Srinivasa M Srinivasula Leonidas Stefanis Joan S Steffan Ruediger Stendel Harald Stenmark Anastasis Stephanou Stephan T Stern Cinthya Sternberg Björn Stork Peter Strålfors Carlos S Subauste Xinbing Sui David Sulzer Jiaren Sun Shi-Yong Sun Zhi-Jun Sun Joseph J Y Sung Kuninori Suzuki Toshihiko Suzuki Michele S Swanson Charles Swanton Sean T Sweeney Lai-King Sy Gyorgy Szabadkai Ira Tabas Heinrich Taegtmeyer Marco Tafani Krisztina Takács-Vellai Yoshitaka Takano Kaoru Takegawa Genzou Takemura Fumihiko Takeshita Nicholas J Talbot Kevin S W Tan Keiji Tanaka Kozo Tanaka Daolin Tang Dingzhong Tang Isei Tanida Bakhos A Tannous Nektarios Tavernarakis Graham S Taylor Gregory A Taylor J Paul Taylor Lance S Terada Alexei Terman Gianluca Tettamanti Karin Thevissen Craig B Thompson Andrew Thorburn Michael Thumm FengFeng Tian Yuan Tian Glauco Tocchini-Valentini Aviva M Tolkovsky Yasuhiko Tomino Lars Tönges Sharon A Tooze Cathy Tournier John Tower Roberto Towns Vladimir Trajkovic Leonardo H Travassos Ting-Fen Tsai Mario P Tschan Takeshi Tsubata Allan Tsung Boris Turk Lorianne S Turner Suresh C Tyagi Yasuo Uchiyama Takashi Ueno Midori Umekawa Rika Umemiya-Shirafuji Vivek K Unni Maria I Vaccaro Enza Maria Valente Greet Van den Berghe Ida J van der Klei Wouter van Doorn Linda F van Dyk Marjolein van Egmond Leo A van Grunsven Peter Vandenabeele Wim P Vandenberghe Ilse Vanhorebeek Eva C Vaquero Guillermo Velasco Tibor Vellai Jose Miguel Vicencio Richard D Vierstra Miquel Vila Cécile Vindis Giampietro Viola Maria Teresa Viscomi Olga V Voitsekhovskaja Clarissa von Haefen Marcela Votruba Keiji Wada Richard Wade-Martins Cheryl L Walker Craig M Walsh Jochen Walter Xiang-Bo Wan Aimin Wang Chenguang Wang Dawei Wang Fan Wang Fen Wang Guanghui Wang Haichao Wang Hong-Gang Wang Horng-Dar Wang Jin Wang Ke Wang Mei Wang Richard C Wang Xinglong Wang Xuejun Wang Ying-Jan Wang Yipeng Wang Zhen Wang Zhigang Charles Wang Zhinong Wang Derick G Wansink Diane M Ward Hirotaka Watada Sarah L Waters Paul Webster Lixin Wei Conrad C Weihl William A Weiss Scott M Welford Long-Ping Wen Caroline A Whitehouse J Lindsay Whitton Alexander J Whitworth Tom Wileman John W Wiley Simon Wilkinson Dieter Willbold Roger L Williams Peter R Williamson Bradly G Wouters Chenghan Wu Dao-Cheng Wu William K K Wu Andreas Wyttenbach Ramnik J Xavier Zhijun Xi Pu Xia Gengfu Xiao Zhiping Xie Zhonglin Xie Da-zhi Xu Jianzhen Xu Liang Xu Xiaolei Xu Ai Yamamoto Akitsugu Yamamoto Shunhei Yamashina Michiaki Yamashita Xianghua Yan Mitsuhiro Yanagida Dun-Sheng Yang Elizabeth Yang Jin-Ming Yang Shi Yu Yang Wannian Yang Wei Yuan Yang Zhifen Yang Meng-Chao Yao Tso-Pang Yao Behzad Yeganeh Wei-Lien Yen Jia-jing Yin Xiao-Ming Yin Ook-Joon Yoo Gyesoon Yoon Seung-Yong Yoon Tomohiro Yorimitsu Yuko Yoshikawa Tamotsu Yoshimori Kohki Yoshimoto Ho Jin You Richard J Youle Anas Younes Li Yu Long Yu Seong-Woon Yu Wai Haung Yu Zhi-Min Yuan Zhenyu Yue Cheol-Heui Yun Michisuke Yuzaki Olga Zabirnyk Elaine Silva-Zacarin David Zacks Eldad Zacksenhaus Nadia Zaffaroni Zahra Zakeri Herbert J Zeh Scott O Zeitlin Hong Zhang Hui-Ling Zhang Jianhua Zhang Jing-Pu Zhang Lin Zhang Long Zhang Ming-Yong Zhang Xu Dong Zhang Mantong Zhao Yi-Fang Zhao Ying Zhao Zhizhuang J Zhao Xiaoxiang Zheng Boris Zhivotovsky Qing Zhong Cong-Zhao Zhou Changlian Zhu Wei-Guo Zhu Xiao-Feng Zhu Xiongwei Zhu Yuangang Zhu Teresa Zoladek Wei-Xing Zong Antonio Zorzano Jürgen Zschocke Brian Zuckerbraun

Autophagy 2012 Apr;8(4):445-544

Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.4161/auto.19496DOI Listing
April 2012

Autophagy in lysosomal myopathies.

Brain Pathol 2012 Jan;22(1):82-8

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1750-3639.2011.00543.xDOI Listing
January 2012

Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.

J Biol Chem 2012 Jan 8;287(4):2689-705. Epub 2011 Dec 8.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1074/jbc.M111.297051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3268427PMC
January 2012

[Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds].

Brain Nerve 2010 Jun;62(6):601-7

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira-shi, Tokyo, Japan.

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June 2010

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.

Ther Adv Neurol Disord 2010 Mar;3(2):127-35

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1177/1756285609359546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002646PMC
March 2010

[Development of therapy for distal myopathy with rimmed vacuoles].

Rinsho Shinkeigaku 2009 Nov;49(11):852-5

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP).

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http://dx.doi.org/10.5692/clinicalneurol.49.852DOI Listing
November 2009

Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.

Neurol India 2008 Jul-Sep;56(3):314-24

Department of Neuromuscular Research, National Institutes of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan.

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June 2009

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.

Nat Med 2009 Jun;15(6):690-5

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1038/nm.1956DOI Listing
June 2009

Monitoring autophagy in muscle diseases.

Methods Enzymol 2009 ;453:379-96

Department of Neuromuscular Research, National Institute of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/S0076-6879(08)04019-6DOI Listing
April 2009

Clinical and genetic analysis of lipid storage myopathies.

Muscle Nerve 2009 Mar;39(3):333-42

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, 187-8502 Tokyo, Japan.

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http://dx.doi.org/10.1002/mus.21167DOI Listing
March 2009

Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.

Curr Opin Neurol 2008 Oct;21(5):596-600

National Institute of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1097/WCO.0b013e32830dd595DOI Listing
October 2008

Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.

Physiol Genomics 2008 Sep 15;35(1):106-15. Epub 2008 Jul 15.

Department of Neuromuscular Research and Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1152/physiolgenomics.90219.2008DOI Listing
September 2008

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.

Muscle Nerve 2008 Sep;38(3):1192-5

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1002/mus.21030DOI Listing
September 2008

Distal lipid storage myopathy due to PNPLA2 mutation.

Neuromuscul Disord 2008 Aug 26;18(8):671-4. Epub 2008 Jul 26.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://www.researchgate.net/profile/Ichizo_Nishino/publicati
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http://dx.doi.org/10.1016/j.nmd.2008.06.382DOI Listing
August 2008

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Hum Mol Genet 2007 Nov 18;16(22):2669-82. Epub 2007 Aug 18.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1093/hmg/ddm220DOI Listing
November 2007

Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Autophagy 2007 Jul-Aug;3(4):396-8. Epub 2007 Jul 12.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.4161/auto.4270DOI Listing
August 2007

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Hum Mol Genet 2007 Jan 12;16(2):115-28. Epub 2006 Dec 12.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://academic.oup.com/hmg/article/16/2/115/2355939/A-Gne-k
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http://dx.doi.org/10.1093/hmg/ddl446DOI Listing
January 2007

Central core disease is due to RYR1 mutations in more than 90% of patients.

Brain 2006 Jun 18;129(Pt 6):1470-80. Epub 2006 Apr 18.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1093/brain/awl077DOI Listing
June 2006

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

Rinsho Shinkeigaku 2005 Nov;45(11):943-5

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP).

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November 2005

Molecular pathomechanism of distal myopathy with rimmed vacuoles.

Acta Myol 2005 Oct;24(2):80-3

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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October 2005