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Towards a functional pathology of hereditary neuropathies

Acta Neuropathologica, 2017-04, Vol.133 (4), p.493-515

2017

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Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Nature genetics, 2009-11, Vol.41 (11), p.1179-1181

2009

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Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

International journal of molecular sciences, 2020-05, Vol.21 (11), p.3810

2020

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PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Cell reports (Cambridge), 2019-03, Vol.26 (13), p.3484-3492.e4

2019

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Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

American journal of human genetics, 2008-04, Vol.82 (4), p.959-970

2008

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SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

Proceedings of the National Academy of Sciences - PNAS, 2009-10, Vol.106 (41), p.17528-17533

2009

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Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.3567-3583

2012

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SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

Brain (London, England : 1878), 2010-08, Vol.133 (8), p.2462-2474

2010

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Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Glia, 2013-07, Vol.61 (7), p.1041-1051

2013

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Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

American journal of human genetics, 2003-11, Vol.73 (5), p.1106-1119

2003

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Transcriptional regulator PRDM12 is essential for human pain perception

Nature genetics, 2015-07, Vol.47 (7), p.803-808

2015

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Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

Brain (London, England : 1878), 2016-08, Vol.139 (Pt 8), p.2143-2153

2016

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature communications, 2021-05, Vol.12 (1), p.2558-2558, Article 2558

2021

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A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

Human molecular genetics, 2015-06, Vol.24 (12), p.3418-3426

2015

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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

American journal of human genetics, 2017-03, Vol.100 (3), p.523-536

2017

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Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

Acta neuropathologica, 2014-05, Vol.127 (5), p.761-777

2014

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Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Brain (London, England : 1878), 2011-06, Vol.134 (Pt 6), p.1839-1852

2011

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A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

Hepatology (Baltimore, Md.), 2005-05, Vol.41 (5), p.1113-1121

2005

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Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

Journal of the American Society of Nephrology, 2002-09, Vol.13 (9), p.2246-2258

2002

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Small Rho GTPases are key regulators of peripheral nerve biology in health and disease

Journal of the peripheral nervous system, 2008-09, Vol.13 (3), p.188-199

2008

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Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2

Gene Expression Patterns, 2006-10, Vol.6 (8), p.978-984

2006

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Towards a functional pathology of hereditary neuropathies

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Transcriptional regulator PRDM12 is essential for human pain perception

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

Small Rho GTPases are key regulators of peripheral nerve biology in health and disease

Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2

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