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Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

• Authors : Vona, B.; Schwartzbaum, D.A.; Rodriguez, A.A.

Subjects: SENSORINEURAL hearing loss; HYPOPIGMENTATION; DISTRIBUTION (Probability theory)

• Source: Journal of the European Academy of Dermatology & Venereology; Sep2022, Vol. 36 Issue 9, p1606-1611, 6p

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Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

• Authors : Paudel, R.; Li, A.; Wiethoff, S.

• Source: Acta Neuropathologica Communications. June 30, 2015, Vol. 3

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Baseline factors associated with early and late death in intracerebral haemorrhage survivors.

• Authors : Banerjee, G.; Ambler, G.; Wilson, D.

Subjects: CEREBRAL hemorrhage; EARLY death; GLASGOW Coma ScaleNATIONAL Institutes of Health (U.S.)

• Source: European Journal of Neurology; Jul2020, Vol. 27 Issue 7, p1257-1263, 7p, 2 Charts, 1 Graph

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Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

• Authors : Koriath, C.; Kenny, J.; Adamson, G.

• Source: Molecular Psychiatry; December 2020, Vol. 25 Issue: 12 p3399-3412, 14p

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GR.2 A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia

• Authors : Pellerin, D; Danzi, MC; Wilke, C

• Source: The Canadian Journal of Neurological Sciences; June 2023, Vol. 50 Issue: Supplement 2 pS46-S46, 1p

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Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.

• Authors : Arber, C. E.; Li, A.; Houlden, H.

Subjects: NEURODEGENERATION; BRAIN diseases; AUTOPHAGY

• Source: Neuropathology & Applied Neurobiology. Apr2016, Vol. 42 Issue 3, p220-241. 22p.

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INV10 Genetic discovery and pathomechanisms of repeat disorders in neuromuscular diseases: lessons from RFC1.

• Authors : Houlden, H.¹ (AUTHOR)

Subjects: *NEUROMUSCULAR diseases; *NEUROLOGICAL disorders; *GENE mappingUNITED Kingdom

• Source: Neuromuscular Disorders. 2023 Supplement 1, Vol. 33, pS127-S127. 1p.

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THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

• Authors : Houlden H; Schneider SA; Paudel R

• Source: Neurology; 3/9/2010, Vol. 74 Issue 10, p846-850, 5p

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Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

• Authors : Janssen JC; Beck JA; Campbell TA

• Source: Neurology; 2003 Jan 28, Vol. 60 Issue 2, p235-239, 5p

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Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features

• Authors : Heidari, M; Johnstone, D M; Bassett, B

• Source: Molecular Psychiatry; November 2016, Vol. 21 Issue: 11 p1599-1607, 9p

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