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Journal Article
EDITOR'S CHOICE

Phenotypic analysis of 303 multiplex families with common epilepsies

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The Epi4K Consortium
Published: 03 July 2017
Journal Article

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

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Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M. Ryan ...
Published: 19 June 2017
Journal Article

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

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Radha Desai, Ann E. Frazier, Romina Durigon, Harshil Patel, Aleck W. Jones ...
Published: 24 May 2017
Journal Article

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

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Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S. Soehn, Jennifer Reichbauer ...
Published: 27 April 2017
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EDITOR'S CHOICE

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

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Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine ...
Published: 21 April 2017
Journal Article

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

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Sarah Morgan, Aleksey Shatunov, William Sproviero, Ashley R. Jones, Maryam Shoai ...
Published: 18 April 2017
Journal Article

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A -related disorders

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Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli ...
Published: 04 April 2017
Journal Article
EDITOR'S CHOICE

Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy

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Jörn-Sven Kühl, Felipe Suarez, Godfrey T. Gillett, Philipp G. Hemmati, John A. Snowden ...
Published: 25 March 2017
Journal Article

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

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Pei-Chien Tsai, Bing-Wen Soong, Inès Mademan, Yen-Hua Huang, Chia-Rung Liu ...
Published: 22 March 2017
Journal Article
EDITOR'S CHOICE

Clinical and genetic characterization of leukoencephalopathies in adults

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David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua ...
Published: 02 March 2017
Journal Article

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

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Anna-Kaisa Anttonen, Anni Laari, Maria Kousi, Yawei J. Yang, Tiina Jääskeläinen ...
Published: 01 March 2017
Journal Article

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

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Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh ...
Published: 28 February 2017
Journal Article

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

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Ortal Barel, May Christine V. Malicdan, Bruria Ben-Zeev, Judith Kandel, Hadass Pri-Chen ...
Published: 24 February 2017
Journal Article

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

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Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir ...
Published: 09 February 2017
Journal Article

Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model

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Elena Georgiou, Kyriaki Sidiropoulou, Jan Richter, Christos Papaneophytou, Irene Sargiannidou ...
Published: 18 January 2017
Journal Article

A mutation of EPT1 ( SELENOI ) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

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Mustafa Y. Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, Amna Al-Futaisi, Barry A. Chioza ...
Published: 04 January 2017
Journal Article

The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress

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Juan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, Zainab Safiedeen, Delphine Prunier-Mirebeau ...
Published: 15 September 2016
Journal Article

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

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Emma S. Reid, Apostolos Papandreou, Suzanne Drury, Christopher Boustred, Wyatt W. Yue ...
Published: 06 September 2016
Journal Article

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

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Katia Hardies, Yiying Cai, Claude Jardel, Anna C. Jansen, Mian Cao ...
Published: 19 July 2016
Journal Article

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

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Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller ...
Published: 17 April 2016