Search Results - "Herrmann DN"

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Authors: Ramos LLP Parmar JM Wijngaard R et al.

Source: Annals of neurology [Ann Neurol] 2026 Jun 08. Date of Electronic Publication: 2026 Jun 08.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

Authors: Silverstein S Nguyen AD Orbach R et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Apr 29. Date of Electronic Publication: 2026 Apr 29.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.

Authors: Bertini A Reilly MM Pisciotta C et al.

Corporate Authors: Bertini A Reilly MM Pisciotta C et al.

Source: European journal of neurology [Eur J Neurol] 2025 Feb; Vol. 32 (2), pp. e70084.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Authors: Kosmanopoulos GP Donohue JK Hoke M et al.

Corporate Authors: Kosmanopoulos GP Donohue JK Hoke M et al.

Source: Brain : a journal of neurology [Brain] 2025 Jan 07; Vol. 148 (1), pp. 238-251.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.

Authors: Rehbein T Purks J Dilek N et al.

Corporate Authors: Rehbein T Purks J Dilek N et al.

Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Dec; Vol. 29 (4), pp. 487-493. Date of Electronic Publication: 2024 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.

Authors: Bontrager JE White AL Brigatti KW et al.

Source: Neurology [Neurology] 2025 Dec 09; Vol. 105 (11), pp. e214425. Date of Electronic Publication: 2025 Nov 12.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Treatment response in patients with clinical and supportive laboratory features of chronic inflammatory demyelinating polyneuropathy without demyelinative findings on nerve conduction studies: A retrospective study.

Authors: Curry P Herrmann DN Stanton M et al.

Source: Muscle & nerve [Muscle Nerve] 2024 Nov; Vol. 70 (5), pp. 1082-1088. Date of Electronic Publication: 2024 Jul 03.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.

Authors: Xu IRL Danzi MC Ruiz A et al.

Corporate Authors: Xu IRL Danzi MC Ruiz A et al.

Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 202-212. Date of Electronic Publication: 2024 Apr 05.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Authors: Cortese A Dohrn MF Curro R et al.

Source: Brain : a journal of neurology [Brain] 2025 Oct 03; Vol. 148 (10), pp. 3737-3747.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome: The TopCSPN Randomized Clinical Trial.

Authors: Smith AG Singleton JR Aperghis A et al.

Corporate Authors: Smith AG Singleton JR Aperghis A et al.

Source: JAMA neurology [JAMA Neurol] 2023 Dec 01; Vol. 80 (12), pp. 1334-1343.

Publication Type: Randomized Controlled Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Equivalence Trial

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Authors: Record CJ Skorupinska M Laura M et al.

Corporate Authors: Record CJ Skorupinska M Laura M et al.

Source: Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4336-4349.

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions.

Authors: Eichinger K Behrens-Spraggins S Sowden JE et al.

Corporate Authors: Eichinger K Behrens-Spraggins S Sowden JE et al.

Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2023 Sep; Vol. 28 (3), pp. 528-529. Date of Electronic Publication: 2023 Jun 04.

Publication Type: Letter; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Disease-specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with Charcot-Marie-Tooth disease type 1A.

Authors: Dinesh K White N Baker L et al.

Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2023 Sep; Vol. 28 (3), pp. 368-381. Date of Electronic Publication: 2023 Jun 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Authors: Rehbein T Wu TT Treidler S et al.

Source: Brain : a journal of neurology [Brain] 2023 Sep 01; Vol. 146 (9), pp. 3826-3835.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.

Authors: Reilly MM Herrmann DN Pareyson D et al.

Source: Annals of neurology [Ann Neurol] 2023 May; Vol. 93 (5), pp. 906-910. Date of Electronic Publication: 2023 Mar 21.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.

Authors: Fridman V Sillau S Bockhorst J et al.

Corporate Authors: Fridman V Sillau S Bockhorst J et al.

Source: Annals of neurology [Ann Neurol] 2023 Mar; Vol. 93 (3), pp. 563-576. Date of Electronic Publication: 2022 Oct 28.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

The GENESIS database and tools: A decade of discovery in Mendelian genomics.

Authors: Danzi MC Powell E Rebelo AP et al.

Source: Experimental neurology [Exp Neurol] 2024 Dec; Vol. 382, pp. 114978. Date of Electronic Publication: 2024 Sep 30.

Publication Type: Journal Article; Review

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2430 (Electronic) Linking ISSN: 00144886 NLM ISO Abbreviation: Exp Neurol Subsets: MEDLINE

Comparison of intraepidermal nerve fiber density and confocal corneal microscopy for neuropathy.

Authors: Reynolds EL Koenig F Watanabe M et al.

Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Dec; Vol. 11 (12), pp. 3115-3124. Date of Electronic Publication: 2024 Oct 12.

Publication Type: Comparative Study; Journal Article; Randomized Controlled Trial

Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A.

Authors: Eichinger K Sowden JE Burns J et al.

Source: Frontiers in neurology [Front Neurol] 2022 Jun 27; Vol. 13, pp. 930435. Date of Electronic Publication: 2022 Jun 27 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.

Authors: Sadjadi R Picher-Martel V Morrow JM et al.

Corporate Authors: Sadjadi R Picher-Martel V Morrow JM et al.

Source: Neurology [Neurology] 2024 Sep 10; Vol. 103 (5), pp. e209763. Date of Electronic Publication: 2024 Aug 12.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE