Publications by authors named "Afshin Saffari"

17Publications

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Oct;143(10):2929-2944

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
October 2020

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye.

Neuropediatrics 2020 06 11;51(3):192-197. Epub 2020 Feb 11.

Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1055/s-0039-3402037DOI Listing
June 2020

Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy.

Neurology 2019 08 10;93(7):e653-e664. Epub 2019 Jul 10.

From the Department of Neuroradiology (J.K., T.H., A.P., M.J., S.H., M.B.), Division of Child Neurology and Metabolic Medicine (A.Z., A.S.), Center for Child and Adolescent Medicine, Department of Neurology (G.S., W.W., M.W.), and Department of Neuroradiology (S.H.), Division of Experimental Radiology, Heidelberg University Hospital, Germany; Department of Neurology (J.M.H.), University of Michigan, Ann Arbor; Medical Faculty (M.J.), University of Tübingen; and German Cancer Consortium (DKTK) within the German Cancer Research Center (DKFZ) (W.W.), Heidelberg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000007945DOI Listing
August 2019

[Gene therapies for neuromuscular diseases].

Nervenarzt 2019 Aug;90(8):809-816

Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland.

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http://dx.doi.org/10.1007/s00115-019-0761-zDOI Listing
August 2019

Novel challenges in spinal muscular atrophy - How to screen and whom to treat?

Ann Clin Transl Neurol 2019 01 13;6(1):197-205. Epub 2018 Nov 13.

Division of Child Neurology and Metabolic Medicine Center for Child and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany.

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http://doi.wiley.com/10.1002/acn3.689
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http://dx.doi.org/10.1002/acn3.689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331314PMC
January 2019

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

J Inherit Metab Dis 2017 Sep 5;40(5):631-640. Epub 2017 May 5.

Department of Neurology, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, CLS 14060, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10545-017-0048-0DOI Listing
September 2017

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex.

J Exp Med 2017 03 9;214(3):681-697. Epub 2017 Feb 9.

Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115

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http://dx.doi.org/10.1084/jem.20160446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339668PMC
March 2017

Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons.

Autophagy 2017 Apr 25;13(4):754-756. Epub 2017 Jan 25.

a The F.M. Kirby Neurobiology Center , Department of Neurology , Boston Children's Hospital, Harvard Medical School , Boston , MA , USA.

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https://www.tandfonline.com/doi/full/10.1080/15548627.2016.1
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http://dx.doi.org/10.1080/15548627.2016.1277310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388227PMC
April 2017

Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex.

Cell Rep 2016 11;17(8):2162

The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.10.051DOI Listing
November 2016

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex.

Cell Rep 2016 10;17(4):1053-1070

The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5078873PMC
http://dx.doi.org/10.1016/j.celrep.2016.09.054DOI Listing
October 2016

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Brain 2016 Feb 29;139(Pt 2):317-37. Epub 2015 Dec 29.

1 The F.M. Kirby Neurobiology Centre, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awv371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841365PMC
February 2016

The evolving spectrum of PRRT2-associated paroxysmal diseases.

Brain 2015 Dec 23;138(Pt 12):3476-95. Epub 2015 Nov 23.

3 Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

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http://brain.oxfordjournals.org/content/brain/138/12/3476.fu
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awv317DOI Listing
December 2015