Andoni Echaniz‐Laguna

Inserm — France

Neuroscience · Life Sciences

51h-index7.7kcitations302works2.52yr avg
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Research Topics

Hereditary Neurological Disorders(66), Peripheral Neuropathies and Disorders(59), Neurogenetic and Muscular Disorders Research(36), Genetic Neurodegenerative Diseases(35), Amyotrophic Lateral Sclerosis Research(27)

Publications295 total

Diagnostic & therapeutic challenges of presymptomatic hereditary transthyretin amyloidosis
Revue Neurologique·2025Open Access
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
JAMA Network Open·2025· 1 citedOpen Access
Nexiguran Ziclumeran Gene Editing in Hereditary ATTR with Polyneuropathy
New England Journal of Medicine·2025· 9 cited
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (<scp>FILNEMUS</scp>) and the French National Rare Disease Database (<scp>BNDMR</scp>)
European Journal of Neurology·2025Open Access
77PADHERE+ trial interim analysis: long-term safety and efficacy of efgartigimod in chronic inflammatory demyelinating polyneuropathy (CIDP)
Neuromuscular Disorders·2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With <i>SH3TC2</i> Gene‐Related Demyelinating Peripheral Neuropathy
European Journal of Neurology·2025· 1 citedOpen Access
EPH6 Cost and Use of Medical Devices in Incident Early-Onset Myasthenia Gravis Patients in France
Value in Health·2025
EPH5 Disability Progression and Associated Costs in Incident Early-Onset Myasthenia Gravis Patients in France A Longitudinal Cohort Study
Value in Health·2025
Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant <i>TTR</i> Carriers
European Journal of Neurology·2025· 4 citedOpen Access
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
European Journal of Human Genetics·2025· 2 citedOpen Access
D.7 Efgartigimod impact on I-RODS daily activity assessment in chronic inflammatory demyelinating polyneuropathy: post hoc analysis of Registrational ADHERE Study
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques·2025Open Access
P.033 Long-term efficacy of Efgartigimod PH20 SC in patients with chronic inflammatory demyelinating polyneuropathy: interim results from the ADHERE+ study
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques·2025Open Access
Long-Term Efficacy of Efgartigimod PH20 SC in Patients with Chronic Inflammatory Demyelinating Polyneuropathy: Interim Results from the ADHERE+ Study (S16.002)
Neurology·2025
Treatment Impact of Efgartigimod PH20 SC on I-RODS Daily Activity Assessment in Patients with Chronic Inflammatory Demyelinating Polyneuropathy: Post Hoc Analysis of the Registrational ADHERE Study (P10-11.025)
Neurology·2025
<i>TTR</i> Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023
European Journal of Neurology·2025Open Access
Factors Distinguishing Nonsystemic Versus Systemic Vasculitic Peripheral Neuropathy: A Retrospective Cohort Study
European Journal of Neurology·2025· 1 citedOpen Access
Phénotype clinique et génétique de la maladie de Charcot-Marie-Tooth liée au gène SH3TC2 en France
Revue Neurologique·2025
Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy
JAMA Neurology·2025· 20 citedOpen Access
Minimal invasive biopsies are highly sensitive for amyloid detection in hereditary transthyretin amyloidosis with polyneuropathy
Journal of the Peripheral Nervous System·2025· 1 citedOpen Access
Cardiac amyloidosis: Which are the TTR variants associated with early occurence of ATTRv-CM?
Archives of cardiovascular diseases·2025
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Frequent Co-authors

Jean‐Philippe Loeffler(11), Luc Dupuis(9), José‐Luis González de Aguilar(8), Christine Tranchant(8), Yann Péréon(7), Frédérique René(7), Jocelyn Laporte(7), Thierry Maisonobe(7), Joffrey Zoll(6), Céline Tard(6), O. Dubourg(6), Émilien Delmont(6), Tanya Stojkovic(5), Cécile Cauquil(5), Jean‐Louis Mandel(5), Pascal Laforêt(4), Françoise Chapon(4), Vincent Laugel(4), Philippe Petiot(4), Valérie Biancalana(4)