Reilly MM - Search Results

1

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

Quartesan I, Vegezzi E, Currò R, Heslegrave A, Pisciotta C, Iruzubieta P, Salvalaggio A, Fernández-Eulate G, Dominik N, Rugginini B, Manini A, Abati E, Facchini S, Manso K, Albajar I, Laban R, Rossor AM, Pichiecchio A, Cosentino G, Saveri P, Salsano E, Andreetta F, Valente EM, Zetterberg H, Giunti P, Stojkovic T, Briani C, López de Munain A, Pareyson D, Reilly MM, Houlden H, Tassorelli C, Cortese A. Quartesan I, et al. Among authors: reilly mm. Mov Disord. 2024 Jan;39(1):209-214. doi: 10.1002/mds.29680. Epub 2023 Dec 6. Mov Disord. 2024. PMID: 38054570 Free PMC article.

2

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK. Houlden H, et al. Ann Neurol. 2001 Apr;49(4):521-5. Ann Neurol. 2001. PMID: 11310631

3

Clinical and genetic characterization of families with triple A (Allgrove) syndrome.

Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM. Houlden H, et al. Among authors: reilly mm. Brain. 2002 Dec;125(Pt 12):2681-90. doi: 10.1093/brain/awf270. Brain. 2002. PMID: 12429595

4

Hereditary sensory neuropathies.

Houlden H, Blake J, Reilly MM. Houlden H, et al. Among authors: reilly mm. Curr Opin Neurol. 2004 Oct;17(5):569-77. doi: 10.1097/00019052-200410000-00007. Curr Opin Neurol. 2004. PMID: 15367861 Review.

5

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.

Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM. Houlden H, et al. Among authors: reilly mm. Ann Neurol. 2004 Nov;56(5):730-4. doi: 10.1002/ana.20267. Ann Neurol. 2004. PMID: 15470753

6

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).

Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Houlden H, et al. Among authors: reilly mm. Brain. 2006 Feb;129(Pt 2):411-25. doi: 10.1093/brain/awh712. Epub 2005 Dec 19. Brain. 2006. PMID: 16364956

7

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Houlden H, Reilly MM. Houlden H, et al. Among authors: reilly mm. Neuromolecular Med. 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43. Neuromolecular Med. 2006. PMID: 16775366 Review.

8

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM. Houlden H, et al. Among authors: reilly mm. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1267-70. doi: 10.1136/jnnp.2007.118968. Epub 2007 Jun 19. J Neurol Neurosurg Psychiatry. 2007. PMID: 17578852 Free PMC article.

9

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Houlden H, Hammans S, Katifi H, Reilly MM. Houlden H, et al. Among authors: reilly mm. Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc. Neurology. 2009. PMID: 19221294 Free PMC article.

10

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.

Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM. Houlden H, et al. Among authors: reilly mm. Neuromuscul Disord. 2009 Apr;19(4):264-9. doi: 10.1016/j.nmd.2009.01.006. Epub 2009 Mar 9. Neuromuscul Disord. 2009. PMID: 19272779

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